Objectives. There are several reports clarifying successful results following open reduction using Ludloff’s medial approach for congenital (CDH) or developmental dislocation of the hip (DDH). This study aimed to reveal the long-term post-operative course until the period of hip-joint maturity after the conventional surgical treatments. Methods. A long-term follow-up beyond the age of hip-joint maturity was performed for 115 hips in 103 patients who underwent open reduction using Ludloff’s medial approach in our hospital. The mean age at surgery was 8.5 months (2 to 26) and the mean follow-up was 20.3 years (15 to 28). The radiological condition at full growth of the hip joint was evaluated by Severin’s classification. Results. All 115 hips successfully attained reduction after surgery; however, 74 hips (64.3%) required corrective surgery at a mean age of 2.6 years (one to six). According to Severin’s classification, 69 hips (60.0%) were classified as group I or II, which were considered to represent acceptable results. A total of 39 hips (33.9%) were group III and the remaining seven hips (6.1%) group IV. As to re-operation, 20 of 21 patients who underwent surgical reduction after 12 months of age required additional corrective surgeries during the growth period as the hip joint tended to subluxate gradually. Conclusion. Open reduction using Ludloff’s medial approach accomplished successful joint reduction for persistent CDH or DDH, but this surgical treatment was only appropriate before the ambulating stage. Cite this article: Bone Joint Res 2014;3:1–6

Aims. To describe the clinical, radiological, and functional outcomes in patients with isolated congenital thoracolumbar kyphosis who were treated with three-column osteotomy by posterior-only approach. Methods. Hospital records of 27 patients with isolated congenital thoracolumbar kyphosis undergoing surgery at a single centre were retrospectively analyzed. All patients underwent deformity correction which involved a three-column osteotomy by single-stage posterior-only approach. Radiological parameters (local kyphosis angle (KA), thoracic kyphosis (TK), lumbar lordosis (LL), pelvic tilt (PT), sacral slope (SS), C7 sagittal vertical axis (C7 SVA), T1 slope, and pelvic incidence minus lumbar lordosis (PI-LL)), functional scores, and clinical details of complications were recorded. Results. The mean age of the study population was 13.9 years (SD 6.4). The apex of deformity was in thoracic, thoracolumbar, and lumbar spine in five, 14, and eight patients, respectively. The mean operating time was 178.4 minutes (SD 38.5) and the mean operative blood loss was 701.8 ml (SD 194.4). KA (preoperative mean 70.8° (SD 21.6°) vs final follow-up mean 24.7° (SD 18.9°); p < 0.001) and TK (preoperative mean -1.48° (SD 41.23°) vs final follow-up mean 24.28° (SD 17.29°); p = 0.005) underwent a significant change with surgery. Mean Scoliosis Research Society (SRS-22r) score improved after surgical correction (preoperative mean 3.24 (SD 0.37) vs final follow-up mean 4.28 (SD 0.47); p < 0.001) with maximum improvement in self-image and mental health domains. The overall complication rate was 26%, including two neurological and five non-neurological complications. Permanent neurological deficit was noted in one patient. Conclusion. Deformity correction employing three-column osteotomies by a single-stage posterior-only approach is safe and effective in treating isolated congenital thoracolumbar kyphosis. Cite this article: Bone Joint J 2021;103-B(7):1309–1316

Diastematomyelia is a rare congenital abnormality of the spinal cord. This paper summarises more than 30 years’ experience of treating this condition. Data were collected retrospectively on 138 patients with diastematomyelia (34 males, 104 females) who were treated at our hospital from May 1978 to April 2010. A total of 106 patients had double dural tubes (type 1 diastematomyelia), and 32 patients had single dural tubes (type 2 diastematomyelia). Radiographs, CT myelography, and MRI showed characteristic kyphoscoliosis, widening of the interpedicle distance, and bony, cartilaginous, and fibrous septum. The incidences of symptoms including characteristic changes of the dorsal skin, neurological disorders, and congenital spinal or foot deformity were significantly higher in type 1 than in type 2. Surgery is more effective for patients with type 1 diastematomyelia; patients without surgery showed no improvement

There is a close link between the embryological development of the musculoskeletal system and all other main organ systems. We report a prospective series of 202 patients with congenital vertebral abnormalities and document the associated abnormalities in other systems. There were 100 boys and 102 girls. In 153 there were 460 associated abnormalities, a mean of 2.27 abnormalities for each patient. Intravenous pyelography was carried out on 173 patients (85.6%) and ultrasonography on the remaining 29 (14.4%). Patients with genitourinary anomalies were more likely to have musculoskeletal (p = 0.002), gastrointestinal (p = 0.02) and cardiac abnormalities (p = 0.008) than those without genitourinary involvement. A total of 54 (26.7%) had at least one genitourinary abnormality, the most frequent being unilateral renal agenesis. There was urinary obstruction in six (3%). There was no association between genitourinary abnormality and the place of birth, parental age, birth order, level of spinal curvature, or the number, type and side of spinal anomaly. There was, however, a statistically significant association (p = 0.04) between costal and genitourinary abnormalities. The incidence of genitourinary abnormalities (26.7%) was similar to that of previously reported series. The diagnosis of a congenital vertebral abnormality should alert the clinician to a wide spectrum of possible associated anomalies most of which are of clinical importance

Aims. The aim of this study was to gain an agreement on the management of idiopathic congenital talipes equinovarus (CTEV) up to walking age in order to provide a benchmark for practitioners and guide consistent, high-quality care for children with CTEV. Methods. The consensus process followed an established Delphi approach with a predetermined degree of agreement. The process included the following steps: establishing a steering group; steering group meetings, generating statements, and checking them against the literature; a two-round Delphi survey; and final consensus meeting. The steering group members and Delphi survey participants were all British Society of Children’s Orthopaedic Surgery (BSCOS) members. Descriptive statistics were used for analysis of the Delphi survey results. The Appraisal of Guidelines for Research & Evaluation checklist was followed for reporting of the results. Results. The BSCOS-selected steering group, the steering group meetings, the Delphi survey, and the final consensus meeting all followed the pre-agreed protocol. A total of 153/243 members voted in round 1 Delphi (63%) and 132 voted in round 2 (86%). Out of 61 statements presented to round 1 Delphi, 43 reached ‘consensus in’, no statements reached ‘consensus out’, and 18 reached ‘no consensus’. Four statements were deleted and one new statement added following suggestions from round 1. Out of 15 statements presented to round 2, 12 reached ‘consensus in’, no statements reached ‘consensus out’, and three reached ‘no consensus’ and were discussed and included following the final consensus meeting. Two statements were combined for simplicity. The final consensus document includes 57 statements allocated into six successive stages. Conclusion. We have produced a consensus document for the treatment of idiopathic CTEV up to walking age. This will provide a benchmark for standard of care in the UK and will help to reduce geographical variability in treatment and outcomes. Appropriate dissemination and implementation will be key to its success. Cite this article: Bone Joint J 2022;104-B(6):758–764

Aims. To identify the minimum set of outcomes that should be collected in clinical practice and reported in research related to the care of children with idiopathic congenital talipes equinovarus (CTEV). Methods. A list of outcome measurement tools (OMTs) was obtained from the literature through a systematic review. Further outcomes were collected from patients and families through a questionnaire and interview process. The combined list, as well as the appropriate follow-up timepoint, was rated for importance in a two-round Delphi process that included an international group of orthopaedic surgeons, physiotherapists, nurse practitioners, patients, and families. Outcomes that reached no consensus during the Delphi process were further discussed and scored for inclusion/exclusion in a final consensus meeting involving international stakeholder representatives of practitioners, families, and patient charities. Results. In total, 39 OMTs were included from the systematic review. Two additional OMTs were identified from the interviews and questionnaires, and four were added after round one Delphi. Overall, 22 OMTs reached ‘consensus in’ during the Delphi and two reached ‘consensus out’; 21 OMTs reached ‘no consensus’ and were included in the final consensus meeting. In all, 21 participants attended the consensus meeting, including a wide diversity of clubfoot practitioners, parent/patient representative, and an independent chair. A total of 21 outcomes were discussed and voted upon; six were voted ‘in’ and 15 were voted ‘out’. The final COS document includes nine OMTs and two existing outcome scores with a total of 31 outcome parameters to be collected after a minimum follow-up of five years. It incorporates static and dynamic clinical findings, patient-reported outcome measures, and a definition of CTEV relapse. Conclusion. We have defined a minimum set of outcomes to draw comparisons between centres and studies in the treatment of CTEV. With the use of these outcomes, we hope to allow more meaningful research and a better clinical management of CTEV. Cite this article: Bone Jt Open 2022;3(1):98–106

This paper reports a high incidence of minor congenital anomalies in boys and girls with Perthes' disease compared with that in a control population. There is a similarity of the incidence of minor anomalies in the children with Perthes' disease to that in babies with a single major congenital defect. Multiple major defects were more numerous and more severe than in the control children. It is speculated that there may be a congenital abnormality affecting skeletal development which in some way makes the hip susceptible to Perthes' disease at a later date

Talipes equinovarus is one of the more common congenital abnormalities affecting the lower limb and can be challenging to manage. This review provides a comprehensive update on idiopathic congenital talipes equinovarus with emphasis on the initial treatment. Current management is moving away from operative towards a more conservative treatment using the Ponseti regime. The long-term results of surgical correction and the recent results of conservative treatment will be discussed

There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme

Adult presentation of neglected congenital muscular torticollis is rare. We report 12 patients with this condition who underwent a modified Ferkel’s release comprising a bipolar release of sternocleidomastoid with Z-lengthening. They had a mean age of 24 years (17 to 31) and were followed up for a minimum of two years. Post-operatively a cervical collar was applied for three weeks with intermittent supervised active assisted exercises for six weeks. Outcome was assessed using a modified Lee score and a Cheng and Tang score. The mean pre-operative rotational deficit was 8.25° (0° to 15°) and mean lateral flexion deficit was 20.42° (15° to 30°), which improved after treatment to a mean of 1.67° (0° to 5°) and 7.0° (4° to 14°) after treatment, respectively. According to the modified Lee scoring system, six patients had excellent results, two had good results and four had fair results, and using the Cheng and Tang score, eight patients had excellent results and four had good results. Surgical management of adult patients with neglected congenital muscular torticollis using a modified Ferkel’s bipolar release gives excellent results. The range of neck movement and head tilt improved in all 12 patients and cosmesis improved in 11, despite the long-standing nature of the deformity

We studied the effect of trochanteric osteotomy in 192 total hip replacements in 140 patients with congenital hip disease. There was bony union in 158 hips (82%), fibrous union in 29 (15%) and nonunion in five (3%). The rate of union had a statistically significant relationship with the position of reattachment of the trochanter, which depended greatly on the pre-operative diagnosis. The pre-operative Trendelenburg gait substantially improved in all three disease types (dysplasia, low and high dislocation) and all four categories of reattachment position. A persistent Trendelenburg gait post-operatively was noticed mostly in patients with defective union (fibrous or nonunion). Acetabular and femoral loosening had a statistically significant relationship with defective union and the position of reattachment of the trochanter. These results suggest that the complications of trochanteric osteotomy in total hip replacement for patients with congenital hip disease are less important than the benefits of this surgical approach

A combined anterior and posterior surgical approach is generally recommended in the treatment of severe congenital kyphosis, despite the fact that the anterior vascular supply of the spine and viscera are at risk during exposure. The aim of this study was to determine whether the surgical treatment of severe congenital thoracolumbar kyphosis through a single posterior approach is feasible, safe and effective. We reviewed the records of ten patients with a mean age of 11.1 years (5.4 to 14.1) who underwent surgery either by pedicle subtraction osteotomy or by vertebral column resection with instrumented fusion through a single posterior approach. The mean kyphotic deformity improved from 59.9° (45° to 110°) pre-operatively to 17.5° (3° to 40°) at a mean follow-up of 47.0 months (29 to 85). Spinal cord monitoring was used in all patients and there were no complications during surgery. These promising results indicate the possible advantages of the described technique over the established procedures. We believe that surgery should be performed in case of documented progression and before structural secondary curves develop. Our current strategy after documented progression is to recommend surgery at the age of five years and when 90% of the diameter of the spinal canal has already developed. Cite this article: Bone Joint J 2013;95-B:1527–32

We report the case of a 24-year-old man with a congenital meniscoid articular disc of the triangular fibrocartilage complex with extensor carpi ulnaris tenosynovitis. His young age, the normal articular cartilage, the lack of degenerative changes at the margins of the defect and its bilateral occurrence made this diagnosis likely. A congenital defect of the articular disc of the triangular fibrocartilage complex should not be misinterpreted as a traumatic rupture and is usually asymptomatic

1. One hundred cases of torticollis and 117 cases of sternomastoid tumour have been reviewed. 2. Congenital torticollis can be sub-divided into two groups: postural and muscular. 3. Congenital postural torticollis is present at birth; it is not associated with a sternomastoid tumour; it is transient in nature; and it does not require operation for its relief. 4. Congenital muscular torticollis is preceded by a sternomastoid tumour which is clinically evident in one-fifth of all cases. 5. The ischaemic theory of the causation of sternomastoid tumours is not supported by recent histological investigations. Some other cause, which probably is operative before birth, must be sought. 6. Four-fifths of all cases of sternomastoid tumours resolve spontaneously and leave no deformity. Excision of the tumour in infancy is therefore unjustifiable. 7. Open division of the muscle and of the cervical fascia in congenital muscular torticollis cures the deformity but leaves an unsightly scar. 8. Subcutaneous tenotomy can be relied upon to cure the deformity if post-operative treatment is carried out skilfully and assiduously over a prolonged period. 9. If complete correction is not gained at the time of subcutaneous tenotomy a better result can be assured by open division of the upper end of the muscle through an incision within the hair line

Difficulties posed in managing developmental dysplasia of the hip diagnosed late include a high-placed femoral head, contracted soft tissues and a dysplastic acetabulum. A combination of open reduction with femoral shortening of untreated congenital dislocations is a well-established practice. Femoral shortening prevents excessive pressure on the located femoral head which can cause avascular necrosis. Instability due to a coexisting dysplastic shallow acetabulum is common, and so a pelvic osteotomy is performed to achieve a stable and concentric hip reduction. We retrospectively reviewed 15 patients (18 hips) presenting with developmental dysplasia of the hip aged four years and above who were treated by a one-stage combined procedure performed by the senior author. The mean age at operation was five years and nine months (4 years to 11 years). The mean follow-up was six years ten months (2 years and 8 months to 8 years and 8 months). All patients were followed up clinically and radiologically in accordance with McKay’s criteria and the modified Severin classification. According to the McKay criteria, 12 hips were rated excellent and six were good. All but one had a full range of movement. Eight had a limb-length discrepancy of about 1 cm. All were Trendelenburg negative. The modified Severin classification demonstrated four hips of grade IA, six of grade IB, and eight of grade II. One patient had avascular necrosis and one an early subluxation requiring revision. One-stage correction of congenital dislocation of the hip in an older child is a safe and effective treatment with good results in the short to medium term

This paper reviews the current knowledge relating to the management of adult patients with congenital hip disease. Orthopaedic surgeons who treat these patients with a total hip replacement should be familiar with the arguments concerning its terminology, be able to recognise the different anatomical abnormalities and to undertake thorough pre-operative planning in order to replace the hip using an appropriate surgical technique and the correct implants and be able to anticipate the clinical outcome and the complications

Ninety-seven limbs, in eighty-one patients, with a diagnosis of congenital deficiency of the fibula have been reviewed. A classification was devised to distinguish the minimal hypoplasia of the fibula (Type I) from the well-known complete absence (Type II). Congenital anomalies of the femur were present in 76 per cent of patients with Type I deficiency and in 59 per cent with Type II. The shortening of the limb was by 13 per cent in Type I and by 19 per cent in Type II, and the percentage shortening was fairly constant during growth. A detailed description of the spectrum of other congenital anomalies was found to be characteristic: for example, the ball and socket formation of the ankle, tarsal coalition and anomalies of the foot. The treatment aimed simply to equalise leg length in Type I deficiency, while amputation of the foot and the fitting of a prosthesis were necessary in Type II to obtain satisfactory function

Aims

Morphological abnormalities are present in patients with developmental dysplasia of the hip (DDH). We studied and compared the pelvic anatomy and morphology between the affected hemipelvis with the unaffected side in patients with unilateral Crowe type IV DDH using 3D imaging and analysis.

Aims. To our knowledge, no study has compared the long-term results of cemented and hybrid total hip arthroplasty (THA) in patients with osteoarthritis (OA) secondary to congenital hip disease (CHD). This is a demanding procedure that may require special techniques and implants. Our aim was to compare the long-term outcome of cemented low-friction arthroplasty (LFA) and hybrid THA performed by one surgeon. Patients and Methods. Between January 1989 and December 1997, 58 hips (44 patients; one man, 43 woman; mean age 56.6 years (25 to 77)) with OA secondary to CHD were treated with a cemented Charnley LFA (group A), and 55 hips (39 patients; two men, 37 women; mean age 49.1 years (27 to 70)) were treated with a hybrid THA (group B), by the senior author (GH). The clinical outcome and survivorship were compared. Results. At all timepoints, group A hips had slightly better survivorship than those in group B without a statistically significant difference, except for the 24-year survival of acetabular components with revision for aseptic loosening as the endpoint, which was slightly worse. The survivorship was only significantly better in group A compared with group B when considering reoperation for any indication as the endpoint, 15 years postoperatively (74% vs 52%, p = 0.018). Conclusion. We concluded that there was not a substantial difference at almost any time in the outcome of cemented Charnley LFAs compared with hybrid THAs when treating patients with OA of the hip secondary to CHD. We believe, however, that after improvements in the design of components used in hybrid THA, this could be the method of choice, as it is technically easier with a shorter operating time. Cite this article: Bone Joint J 2019;101-B:1050–1057

We have evaluated the results of total hip replacement in patients with congenital hip disease using 46 cemented all-polyethylene Charnley acetabular components implanted with the cotyloplasty technique in 34 patients (group A), and compared them with 47 metal-backed cementless acetabular components implanted without bone grafting in 33 patients (group B). Patients in group A were treated between 1988 and 1993 and those in group B between 1990 and 1995. The mean follow-up for group A was 16.6 years (12 to 18) and the mean follow-up for group B was 13.4 years (10 to 16). Revision for aseptic loosening was undertaken in 15 hips (32.6%) in group A and in four hips (8.5%) in group B. When liner exchange was included, a total of 13 hips were revised in group B (27.7%). The mean polyethylene wear was 0.11 mm/yr (0.002 to 0.43) and 0.107 mm/yr (0 to 0.62) for groups A and B, respectively. Polyethylene wear in group A was associated with linear osteolysis, and in group B with expansile osteolysis. In patients with congenital hip disease, when 80% cover of the implant can be obtained, a cementless acetabular component appears to be acceptable and provides durable fixation. However, because of the type of osteolysis arising with these devices, early exchange of a worn liner is recommended before extensive bone loss makes revision surgery more complicated

1. Congenital dislocation of the hip in identical twins is reported. 2. The heredity of congenital dislocation of hip is discussed. Studies in twins show that congenital dislocation of hip is probably a hereditary dysplasia of the acetabulum and upper end of the femur, and that external factors play a less important role

1. General joint laxity affecting more than three joints was found in 7 per cent of normal schoolchildren. Similar laxity was found in fourteen of a random series of forty-eight girls, and in nineteen of twenty-six boys, with non-familial congenital dislocation of the hip. Such laxity was also found in four of seven girls and five of seven boys with familial (first degree relative affected) congenital dislocation of the hip. 2. It is concluded that persistent generalised joint laxity, which is often familial, is an important predisposing factor to congenital dislocation of the hip in boys. It is less important in girls, except perhaps in familial cases, as in girls there is an alternative temporary hormonal cause of joint laxity

Sixty-nine patients with congenital abnormality of the femur were reviewed. Their manifestation of femoral dysplasia ranged from an intact femur approximately 60 per cent of the length of the normal leg to a subtotal absence of the femur in which only the femoral condyles remained, often with a congenital fusion of the knee joint. Two groups were defined: Group I consisted of those with congenital hypoplastic femur in which the hip and knee could be made functional and where, in some patients at least, leg equalisation was possible; Group II consisted of those with true proximal focal femoral deficiency where the hip joint was never normal and the knee joint was always useless. The patients in each group were examined and evaluated with respect to clinical signs, surgical procedures performed, and prosthetic requirements and function. A protocol of treatment for both groups is suggested

1 . The magnitude of the problem of congenital anomalies becomes evident when one takes into consideration the fact that they cause the death of approximately one quarter of the human race either before or shortly after birth, and handicap an appreciable proportion of the survivors throughout their lives. Further, a significant percentage of infants judged to be normal at birth are found in later life to suffer from "disguised" anomalies of the skeleton and soft tissues. Though the study of genetic factors leading to congenital defects has attracted a great deal of attention during the last few decades, the importance of environmental causes of human malformations has received relatively less emphasis. The association of congenital anomalies such as cataract and cardiac septal defects with maternal intercurrent infection of rubella during the early months of pregnancy demonstrates clearly that changes in the germplasm cannot always be invoked as the cause of developmental abnormalities. Congenital malformations that are sometimes genetically determined, such as microphthalmos, cleft palate, and certain skeletal abnormalities, can be caused in the offspring not only by maternal nutritional deficiencies and x-radiation but also, at least in some animals, such as chickens, rats and rabbits, by the introduction of certain substances like insulin into the environment of the embryo during its development. 2. Since very little is known of the detailed histology of the early human embryo, the histological examination of cases of perverted growth is mainly limited to aborted foetuses which, unfortunately, tend to present varying degrees of post-mortem degeneration before accurate histological methods can be applied. It is exactly in this field that animal experiments can offer valuable help. According to Mall and other embryologists the pathological changes that take place in human foetuses and those obtained experimentally in animals are not merely "analogous or similar but identical.". 3. An attempt has been made to review, in some detail, the more important work which has been carried out on experimental teratogenesis, on the epidemiological implications of developmental arrests in humans, and on foetal abnormalities associated with maternal metabolic and hormonal disorders during pregnancy. 4. The technique employed for injection of insulin into the egg yolk has been described. Methods used for the estimation of blood sugar in chick embryos at various stages after injection of insulin and special histochemical techniques for localising polysaccharides in cartilage have been outlined. 5. A few salient experimental results have been tabulated, and some of the insulin-induced abnormalities have been illustrated. 6. The possible mechanism of action of insulin in the causation of the various developmental anomalies has been discussed. Broadly speaking, insulin seems to affect primarily the part or tissue which is in the most active stage of growth or differentiation at the time of the injection. Within the range of 0·05 to 6 units of insulin employed, the incidence, severity and distribution of the deformities appear to increase with the dose of the hormone. It has been observed that the hypoglycaemia caused by insulin injection is not counteracted till about the twelfth day of incubation, presumably because of excessive accumulation of glycogen in the yolk-sac membrane immediately after the injection, and because of lack of glycogen storage in the embryonic liver and the absence of active secretion in the endocrine glands concerned with the carbohydrate metabolism of the embryo. It has been suggested that this unchecked hypoglycaemia may deprive the mesenchyme, pre-cartilage and cartilage of glycogen and mucopolysaccharides (chondroiten-sulphuric acid complexes), depending on the time of injection and the dose of insulin, and thus not only give rise to a variety of single and multiple deformities in the cartilaginous skeleton but also interfere with the normal endochondral ossification, resulting in a generalised developmental disturbance of bone resembling osteogenesis imperfecta in the human. 7. Insulin-induced abnormalities can be prevented to a remarkable extent by injecting nicotinamide and riboflavin into eggs along with insulin. 8. The question of the practical application of the knowledge gained from experimental observations on insulin-induced developmental abnormalities in explaining the possible causation of congenital anomalies in humans by genetic and environmental teratogenic factors, has been discussed. It is suggested that the orderly progression from the mesenchymatous condensation to cartilage, and then through calcified cartilage to bone, may be disturbed by these teratogenic factors at critical phases during the development of the embryo, and a variety of single and multiple skeletal deformities may thus be induced. 9. A plea is made for routine pathological and radiological examination of aborted foetuses and stillborn infants more or less on the lines followed for experimentally induced deformities with a view to applying the knowledge gained from animal experiments to a better understanding of the etiology and pathology of human congenital anomalies. 10. As regards the possible prevention of these deformities, it is not always easy to offer sound eugenic advice in the cases of congenital malformations determined partly or completely by genetic factors, for two important reasons. First, it is often difficult to distinguish between genetically determined congenital anomalies and their phenocopies. Secondly, genetically determined developmental defects sometimes show surprisingly variable expressivity and penetrance. For the conditions in which both genetic and environmental factors are involved, the most profitable immediate line of attack would be on the environmental factors. A relatively simpler problem is presented by the malformations which are, for all practical purposes, entirely caused by environmental factors. Measures to prevent congenital anomalies caused by prenatal rubella, such as exposure of girls to the disease during childhood and protection of pregnant women during the early stages of pregnancy by immune serum, are under active consideration. 11 . Further energetic investigation of the causes of permaturity, stillbirths, monstrosities and congenital malformations is urgently needed, before embarking on a successful programme for prevention. "The day of successful prophylaxis is not yet, but it is much nearer than seemed possible a few years ago."

1. Eighty infants with congenital dysplasia of the hip, diagnosed before walking began, are reviewed. 2. The clinical and radiographic features of congenital dysplasia are described. 3. A dysplastic hip may either become normal spontaneously, or it may deteriorate to the state of true dislocation. 4. Treatment is discussed

1. The clinical and radiological features of thirty-two feet with congenital vertical talus are described and subdivided into groups determined by the presence or absence of associated abnormalities. 2. The differential diagnosis of congenital vertical talus from flat foot, talipes calcaneus and uncorrected club foot is discussed. 3. No benefit came from either non-operative treatment or tenotomy of the tibialis anterior

1. An unusual congenital anomaly of the cervical spine is described. This lesion caused a localised cervical kyphosis and resulted in the development of a mild tetraparesis. 2. The case reported is believed to be the first on record in the English literature of multiple posterior hemivertebrae in the cervical region. 3. The neck deformity was associated with an unusual combination of developmental anomalies–namely, brachyphalangy and bilateral congenital optic atrophy. 4. The importance of differentiating between congenital and acquired causes of kyphosis is emphasised. 5. The radiographic appearances of posterior hemivertebra are described, and the differential diagnosis is considered. 6. The development of the vertebral body, and the relationship between coronal cleft vertebra and posterior hemivertebra, are discussed. The possible role of a disturbance of vascular supply in pathogenesis is mentioned. 7. This report augments the growing literature on congenital skeletal anomalies occurring in combination with isolated congenital ocular defects

In five children, six forearms with a fixed pronation deformity secondary to congenital radioulnar synostosis were treated by a derotation osteotomy of the distal radius and the midshaft of the ulna. There were three boys and two girls with a mean age of 4.9 years (3.5 to 8.25) who were followed up for a mean of 29 months (18 to 43). The position of the forearm was improved from a mean pronation deformity of 68° (40° to 80°) to a pre-planned position of 10° of supination in all cases. Bony union was achieved by 6.3 weeks with no loss of correction. There was one major complication involving a distal radial osteotomy which required exploration for a possible compartment syndrome

1. Four cases of true congenital vertical talus are described; in three of the four cases there were other major deformities of the skeleton. All were treated by open operation; the operation sacrificed part of the substance of the navicular bone, which was placed between the forepart of the calcaneus and the head of the talus. 2. The results five to ten years after operation show that stable reduction was maintained without any further treatment. They suggest, however, that more of the navicular bone could have been removed or that the whole navicular might be excised, at least in the more severe deformities. 3. Congenital vertical talus resembles club foot (equino-cavo-varus) in that difficulty in reduction and in maintenance of the reduction results from the tension in the medial pillar of the foot. Easing of the tension can result in recurrence of the dislocation or, alternatively, a reversal of the deformity

A congenital, unilateral, fixed flexion deformity in a neonate was diagnosed as a congenital absence of the knee. A single cartilage mass, with fusion of the lower femoral and upper tibial ossification centres, was demonstrated by imaging studies. This condition has been reported in the literature only once before. Surgery on our patient, which was performed at the age of two years, consisted of separation of the fused cartilaginous anlage and gradual correction of the deformity using an Ilizarov frame

There is controversy whether congenital foot abnormalities are true risk factors for pathological dysplasia of the hip. Previous United Kingdom screening guidelines considered congenital talipes equinovarus (CTEV) to be a risk factor for hip dysplasia, but present guidelines do not. We assessed the potential relationship between pathological dysplasia of the hip and fixed idiopathic CTEV. We present a single-centre 21-year prospective longitudinal observational study. All fixed idiopathic CTEV cases were classified (Harrold and Walker Types 1 to 3) and the hips clinically and sonographically assessed. Sonographic Graf Type III, IV and radiological irreducible hip dislocation were considered to be pathological hip dysplasia. Over 21 years there were 139 children with 199 cases of fixed idiopathic CTEV feet. Sonographically, there were 259 normal hips, 18 Graf Type II hips, 1 Graf Type III hip and 0 Graf Type IV hip. There were no cases of radiological or sonographic irreducible hip dislocation. Fixed idiopathic CTEV should not be considered as a significant risk factor for pathological hip dysplasia. This conclusion is in keeping with the current newborn and infant physical examination guidelines in which the only risk factors routinely screened are family history and breech presentation. Our findings suggest CTEV should not be considered a significant risk factor in pathological dysplasia of the hip. Cite this article: Bone Joint J 2014;96-B:1553–5

Children with congenital vertical talus (CVT) have been treated with extensive soft-tissue releases, with a high rate of complications. Recently, reverse Ponseti-type casting followed by percutaneous reduction and fixation has been described, with excellent results in separate cohorts of children with CVT, of either idiopathic or teratological aetiology. There are currently no studies that compare the outcome in these two types. We present a prospective cohort of 13 children (21 feet) with CVT of both idiopathic and teratological aetiology, in which this technique has been used. Clinical, radiological and parent-reported outcomes were obtained at a mean follow-up of 36 months (8 to 57). Six children (nine feet) had associated neuromuscular conditions or syndromes; the condition was idiopathic in seven children (12 feet). Initial correction was achieved in all children, with significant improvement in all radiological parameters. Recurrence was seen in ten feet. Modification of the technique to include limited capsulotomy at the initial operation may reduce the risk of recurrence. The reverse Ponseti-type technique is effective in the initial correction of CVT of both idiopathic and teratological aetiology. Recurrence is a problem in both these groups, with higher rates than first reported in the original paper. However, these rates are less than those reported after open surgical release. Cite this article: Bone Joint J 2014;96-B:274–8

Structural defects of the posterior arch of the atlas are rare, and range from clefts of variable location and size to more extensive defects such as complete agenesis. These abnormalities are usually incidental radiological findings. We present a case of a fracture of the anterior arch of the atlas associated with a congenital abnormality of the posterior arch

The clinical and radiological features of 12 knees (10 patients) with congenital absence of the anterior cruciate ligament are presented. The high frequency of this condition in association with other more easily recognised congenital abnormalities of the knee is discussed. It is concluded that congenital absence of the anterior cruciate ligament is more common than generally suspected and is associated with other developmental abnormalities of both bone and soft tissue in the lower limb, particularly around the knee joint

We carried out three total knee replacements with proximal realignment in two patients with severe osteoarthritis of the knee and congenital dislocation of the patella. During the operation, the femur and the tibia were cut according to the recommendations of the manufacturer of the implant. The femoral component was placed in external rotation and the centre of the tibial component aligned in relation to the tibial tuberosity with regard to rotation and translation. After making the bone cuts, the iliotibial tract was detached from Gerdy’s tubercle, the popliteus tendon divided, and the biceps femoris tendon elongated by Z-plasty. After the trial implants were positioned, a proximal re-alignment procedure was performed. One knee had deep infection. There was one dislocated patella which was repositioned, and walking ability was improved in all knees. We believe that the rotational alignment of a prosthesis is as important as the soft-tissue surgery

1. Observations on ninety-four persons with congenital coxa vara living in a Turkish village named Gonyeli in Cyprus are presented. 2. Various clinical and laboratory studies showed, in addition to the congenital coxa vara of varying severity, marked short stature and bowing of the lower extremities in almost all affected individuals and relative iliac hypoplasia and protrusio acetabuli in some. 3. Pedigree analysis indicates that this hitherto undescribed condition is inherited as an autosomal dominant trait

The early management of bilateral congenital popliteal webbing in a brother and sister is described. There was no familial history of webbing, but the maternal grandfather had a hare-lip. Although the sciatic nerve is so unfavourably placed in the web, correction of the flexion deformity can apparently be carried out safely after plastic repair of the skin by Z-plasty and excision of the fibrous web cord alone, without causing a traction paralysis. These cases appear to be unique in that the patients are siblings of different sex with identical congenital abnormalities of bilateral webbing, cleft palate and fistulae of the mucous membrane of the lower lip

The variability in measurement of angles in congenital scoliosis is not known, but it is postulated that it is larger than that in adolescent idiopathic scoliosis due to skeletal immaturity, incomplete ossification, and anomalous development of the end-vertebrae. To determine this variability, we selected 54 radiographs of adequate quality showing 67 scoliotic curves from children with congenital scoliosis. The end-vertebrae were preselected. Each curve was measured by the Cobb method on two separate occasions by six different observers, using the same goniometer and marker. The intraobserver variability was +/- 9.6 degrees and the interobserver variability +/- 11.8 degrees. If 'significant progression' is to be used as a criterion for surgical fusion in congenital scoliosis, there should be at least a 23 degrees increase, the entire range of the interobserver variability, in the curvature to ensure that the perceived increase is not due to variability in measurement

A five-day-old boy was referred with a soft-tissue mass in his right upper arm. Plain radiographs and ultrasound demonstrated a lesion extending from the axilla to the elbow on the posterolateral aspect of the humerus. Open biopsy confirmed the diagnosis of congenital haemangiopericytoma. After MRI and selective angiography, excision biopsy was carried out, but no adjuvant therapy was administered. At further examination, four years and ten months later, he was noted to have three small nodules at the site of the original tumour. Excision biopsy confirmed this to be a local recurrence, although the lesion was less cellular with no appreciable mitotic activity. Congenital haemangiopericytoma is a rare cause of a soft-tissue mass in children. Most tumours are benign, and recurrence is uncommon. The treatment is controversial, but most centres recommend the use of adjuvant chemotherapy, combined with complete excision. We recommend treatment with doxorubicin. Orthopaedic surgeons should be familiar with this tumour since 30% to 50% of cases occur in the limbs

We present a retrospective review of a single-surgeon series of 30 consecutive lengthenings in 27 patients with congenital short femur using the Ilizarov technique performed between 1994 and 2005. The mean increase in length was 5.8 cm/18.65% (3.3 to 10.4, 9.7% to 48.8%), with a mean time in the frame of 223 days (75 to 363). By changing from a distal to a proximal osteotomy for lengthening, the mean range of knee movement was significantly increased from 98.1° to 124.2° (p = 0.041) and there was a trend towards a reduced requirement for quadricepsplasty, although this was not statistically significant (p = 0.07). The overall incidence of regenerate deformation or fracture requiring open reduction and internal fixation was similar in the distal and proximal osteotomy groups (56.7% and 53.8%, respectively). However, in the proximal osteotomy group, pre-placement of a Rush nail reduced this rate from 100% without a nail to 0% with a nail (p < 0.001). When comparing a distal osteotomy with a proximal one over a Rush nail for lengthening, there was a significant decrease in fracture rate from 58.8% to 0% (p = 0.043). We recommend that in this group of patients lengthening of the femur with an Ilizarov construct be carried out through a proximal osteotomy over a Rush nail. Lengthening should also be limited to a maximum of 6 cm during one treatment, or 20% of the original length of the femur, in order to reduce the risk of complications

1. Two cases of an unrecognised congenital defect of the humeral head are described and the cause is discussed. 2. Only six cases with similar radiographic appearances could be collected from the literature. In most of these cases other skeletal deformities were present, whereas in those now reported only the shoulder was affected. 3. Examination of radiographs suggests that the main deformity consists of lack of development of the capital epiphysis of the humerus. 4. Consideration of the cases, together with experimental data from the studies of Fell and Canti, suggests that the time in development at which the fault occurred was the presumptive joint stage, just when the articular rudiments had separated. 5. A "nociferous agent," acting only for a limited period, and only on certain tissues, is postulated. 6. It is suggested that the defects recorded should be recognised as a group of congenital deformities of the shoulder joint

Only two cases have been reported of congenital dislocation of the hip in infants born after extrauterine pregnancies. We report a further two and discuss the management and the variable outcome. These cases seem to confirm that congenital dislocation of the hip is associated with moulding forces rather than being a teratological abnormality

Five knees with congenital dislocation were explored. The cruciate ligaments were found to be absent or hypoplastic. The results obtained by reconstructing an anterior cruciate ligament appear to be good. On the basis of dissections of foetal knees we believe that the cruciate ligaments are the main structures preventing an anterior dislocation of the knee in early foetal life; this deviation from the adult pattern is due to the bony configuration of the foetal knee. We therefore postulate that the basic defect in congenital dislocation of the knee is an absence or hypoplasia of the cruciate ligaments

Fifty-four adults with eighty hips affected by congenital disease which had not been treated have been reviewed. Fifty-nine per cent of forty-two dislocated hips had fair or poor grading scores. The incidence of osteoarthritis was markedly increased in the presence of a well-developed false acetabulum. Unilateral dislocation led to valgus deformity and degenerative changes in the ipsilateral knee in seven of twenty-two patients. Dislocation did not increase the incidence of symptomatic lumbar spondylosis. The height of the dislocated head on the ilium was not found to be related to the prognosis for the hip, the knee or the lumbar spine and did not correlate with the development of the false acetabulum. Frank congenital subluxation eventually led to osteoarthritis of the hip

1. Twenty-one cases of congenital dislocation of the hip were found on examination of 1,881 consecutive neonates on the first day of life, giving an incidence of eleven per 1,000 live births. 2. Insignificant high-pitched "clicks" were noted in 10 per cent of newborn children. 3. Conversion of half of the patients with hip dislocation to normal occurred during the first post-natal week. 4. Joint laxity was not a feature of the newborn with congenital dislocation of the hip. 5. Oestradiol, oestrone and oestriol were estimated in twenty-fourhour urine samples collected from sixteen patients with congenital dislocation of the hip and nineteen matched controls during the first six days of life. No significant differences in oestrogen output between the two groups were found. 6. The hypothesis that congenital dislocation of the hip is a result of an inborn error of oestrogen metabolism in the newborn is not supported

A few points in this report deserve to be stressed. Indications–It is important that the orthopaedic surgeon should decide at a very early stage which of the two methods, closed or open, he must use. These do not exclude each other but are on the other hand complementary. Nowadays the dislocated hip can be reduced by open operation with a very good chance of lasting success. This should be carried out if a hip cannot easily be reduced otherwise, or if there is any doubt that closed reduction has been successful–and as early as possible, preferably before the age of three years. Technique–Ample exposure of the joint and removal of all obstacles to reduction are important. Reduction must be complete and stable but without stress, and there must be no interference with the articular bone and cartilage. After-care–Reduction, however perfect, is only the first step towards recovery. The hip must be observed carefully and the most suitable moments for mobilisation and for walking must be chosen; this calls for nice judgment. When it is clear that the roof of the acetabulum is not developing or that persistent valgus and anteversion may encourage subluxation, a secondary operation should be undertaken at once. Radiography is necessary about every three months for the first two years. Assessment of results–With a strict system of assessment, like McFarland's, we have observed 68·3 per cent favourable results in 171 hips treated by open reduction. It is obvious that the problem of congenital dislocation of the hip has not yet been completely solved. But if we review the progress of recent years we come to the encouraging conclusion that much has already been achieved, and that the efforts of the many orthopaedic surgeons who have dedicated themselves to the treatment of congenital dislocation of the hip have not gone unrewarded

1. Radiological criteria in the diagnosis of congenital dislocation of the head of the radius are suggested. 2. Some of the radiographic features described as characteristic of congenital dislocation of the head of the radius may be found also in post-traumatic dislocation of the radial head

1. A patient with ectopic bone in the upper arm associated with multiple congenital anomalies is reported. 2. The previous cases of congenital abnormalities in patients with ectopic bone formation have been indicated and the problem of etiology has been discussed

We present a systematic review of the results of the Ponseti method of management for congenital talipes equinovarus (CTEV). Our aims were to assess the method, the effects of modifications to the original method, and compare it with other similar methods of treatment. We found 308 relevant citations in the English literature up to 31 May 2010, of which 74 full-text articles met our inclusion criteria. Our results showed that the Ponseti method provides excellent results with an initial correction rate of around 90% in idiopathic feet. Non-compliance with bracing is the most common cause of relapse. The current best practice for the treatment of CTEV is the original Ponseti method, with minimal adjustments being hyperabduction of the foot in the final cast and the need for longer-term bracing up to four years. Larger comparative studies will be required if other methods are to be recommended

1. Breech malposition and hormonal joint laxity produce atraumatic posterior dislocations in the hip joints of young rabbits. 2. Experimental studies were shown to cause the development of a limbus and other softtissue changes similar to those found in human congenital dislocations. 3. The development of femoral retroversion and anteversion in the presence of joint laxity is described. 4. The co-existence of breech malposition and hormonal joint laxity in utero, and their importance as prime factors in the etiology of congenital dislocation of the hip, are discussed

Congenital dislocation of the peroneal tendons is a rare and infrequently reported deformity of the foot in the neonate. Four cases of this deformity associated with a congenital calcaneovalgus deformity of the foot have been treated and followed to the resolution of both of the deformities. The calcaneovalgus foot proved more resistant to correction and required more prolonged and aggressive treatment than was usual when it was found as an isolated deformity. All four patients demonstrated other stigmata of intra-uterine malposition and oligohydramnios or both. Our anatomical studies suggested that the superior peroneal retinacular ligament was the critical stabilising structure for the peroneal tendons. A concept of the pathogenesis of this deformity is discussed and a proven regimen for its treatment presented

Sixty patients with congenital deformities of the spine were operated upon in the past fifteen years using a two-stage procedure. In the fifty patients with scoliosis half of the deformities were due to hemivertebrae and half to unilateral bars. The average correction of the deformity was 47 per cent. Early neurological signs observed in two patients with a diastematomyelia resolved. Of the ten patients with kyphosis nine had neurological signs of impending paraplegia and one was completely paraplegic before operation; all improved markedly. Posterior spinal fusion alone in the rapidly progressing congenital deformity may not prevent further progression, particularly in those cases iwth unilateral bars. Anterior resection of the vertebral body with later posterior fusion with Harrington instrumentation is safe and effective

1. The family history of, and associated congenital abnormalities in, patients with talipes equinovarus, talipes calcaneo-valgus and metatarsus varus living in Devonshire has been studied. 2. The chances of any individual having one of these deformities is approximately one per 1,000 in each case. 3. If one child in a family has the deformity, the chances of a second having it are one in thirty-five for talipes equinovarus and one in twenty for talipes calcaneo-valgus and metatarsus varus. 4. The male relatives of the female patients with talipes equinovarus are at particular risk. 5. It is suggested that the cause of club foot is partly genetic and partly environmental, from a factor acting on the foetus in the uterus. 6. The classification of associated congenital abnormalities leads to the suggestion that the genetic factor in talipes equinovarus and talipes calcaneo-valgus relates to defective formation of connective tissue

Congenital unilateral anterolateral tibial bowing in combination with a bifid ipsilateral great toe is a very rare deformity which resembles the anterolateral tibial bowing that occurs in association with congenital pseudarthrosis of the tibia. However, spontaneous resolution of the deformity without operative treatment and with a continuously straight fibula has been described in all previously reported cases. We report three additional cases and discuss the options for treatment. We suggest that this is a specific entity within the field of anterolateral bowing of the tibia and conclude that it has a much better prognosis than congenital pseudarthrosis of the tibia, although conservative treatment alone may not be sufficient

Between November 1997 and December 2000 we performed 27 total hip replacements in 22 patients with high congenital dislocation of the hip using porous tantalum monoblock acetabular components implanted in the true acetabular bed. Clinical and radiological evaluation was performed at regular intervals for a mean of 10.2 years (8.5 to 12). The mean Harris Hip Score improved from 48.3 (15 to 65) pre-operatively to 89.5 (56 to 100) at the final follow-up. The mean Oxford Hip Score was 49.5 (35 to 59) pre-operatively and decreased to 21.2 (12 to 48) at one year and 15.2 (10 to 28) at final follow-up. Migration of the acetabular component was assessed with the EBRA software system. There was a mean migration of 0.68 mm (0.49 to 0.8) in the first year and a mean 0.89 mm (0.6 to 0.98) in the second year, after excluding one initial excessive migration. No revision was necessary for any reason, no acetabular component became loose, and no radiolucent lines were observed at the final follow-up. The porous tantalum monoblock acetabular component is an implant offering adequate initial stability in conjunction with a modulus of elasticity and porosity close to that of cancellous bone. It favours bone ingrowth, leading to good mid-term results

A clinical and radiological study was conducted on 97 total hip replacements performed for congenital hip dislocation in 79 patients between 1989 and 1998 using a three-dimensional custom-made cementless stem. The mean age at operation was 48 years (17 to 72) and the mean follow-up was for 123 months (83 to 182). According to the Crowe classification, there were 37 class I, 28 class II, 13 class III and 19 class IV hips. The mean leg lengthening was 25 mm (5 to 58), the mean pre-operative femoral anteversion was 38.6° (2° to 86°) and the mean correction in the prosthetic neck was −23.6° (−71° to 13°). The mean Harris hip score improved from 58 (15 to 84) to 93 (40 to 100) points. A revision was required in six hips (6.2%). The overall survival rate was 89.5% (95% confidence interval 89.2 to 89.8) at 13 years when two hips were at risk. This custom-made cementless femoral component, which can be accommodated in the abnormal proximal femur and will correct the anteversion and frontal offset, provided good results without recourse to proximal femoral corrective osteotomy

We report for the first time the combination of congenital sacral agenesis and congenital absence of the pituitary gland. This rare association is described in a baby born to a diabetic mother. The baby died at the age of 11 weeks after a cardiorespiratory collapse. The findings at necropsy, which included unusual neurological and visceral anomalies, are reported. We draw attention to the increasing evidence that maternal diabetes is a factor in producing foetal malformations

Instability of the knee is frequently found in association with congenital leg-length discrepancy. We have studied six such patients clinically, radiologically and arthroscopically. Clinical signs of knee instability and significant radiological changes were present in all, and at arthroscopy the anterior cruciate ligament was completely absent in four patients and functionless in the other two. This deficiency appears to be a congenital condition which may predispose to meniscus injury or retropatellar pain; it may also lead to subluxation or dislocation of the knee during leg-lengthening procedures

1. Congenital dislocation of the hip can be diagnosed clinically immediately after birth and the diagnosis confirmed radiologically by a special technique. 2. If the affected joint is reduced during the first two or three days after birth and held reduced for a period not exceeding three months, the joint will remain stable. 3. This treatment probably leads to normal development of the hip joint. 4. The cause of congenital dislocation of the hip may be laxity of the soft tissues of the joint and not a primary dysplasia of the acetabulum

A total of 38 relapsed congenital clubfeet (16 stiff, 22 partially correctable) underwent revision of soft-tissue surgery, with or without a bony procedure, and transfer of the tendon of tibialis anterior at a mean age of 4.8 years (2.0 to 10.1). The tendon was transferred to the third cuneiform in five cases, to the base of the third metatarsal in ten and to the base of the fourth in 23. The patients were reviewed at a mean follow-up of 24.8 years (10.8 to 35.6). A total of 11 feet were regarded as failures (one a tendon failure, five with a subtalar fusion due to over-correction, and five with a triple arthrodesis due to under-correction or relapse). In the remaining feet the clinical outcome was excellent or good in 20 and fair or poor in seven. The mean Laaveg-Ponseti score was 81.6 of 100 points (52 to 92). Stiffness was mild in four feet and moderate or severe in 23. Comparison between the post-operative and follow-up radiographs showed statistically significant variations of the talo-first metatarsal angle towards abduction. Variations of the talocalcaneal angles and of the overlap ratio were not significant. Extensive surgery for relapsed clubfoot has a high rate of poor long-term results. The addition of transfer of the tendon of tibialis anterior can restore balance and may provide some improvement of forefoot adduction. However, it has a considerable complication rate, including failure of transfer, over-correction, and weakening of dorsiflexion. The procedure should be reserved for those limited cases in which muscle imbalance is a causative or contributing factor

1. Three cases of congenital kyphosis at or near the thoraco-lumbar junction are reported. 2. The features of the deformity are discussed

In a retrospective review of 302 clinically suspected cases of congenital syphilis, bone changes were found in 197. The skeletal manifestations were periostitis (102 cases), osteitis (20), and metaphyseal changes (71). Combinations of more than one lesion were found in 61. Pseudoparalysis was a presenting sign in 34 infants; 12 of these were found to have had pathological fractures and four had dactylitis. Complete radiological healing without residual changes was seen in all 59 cases that were recalled for review. The orthopaedic surgeon should consider the diagnosis of congenital syphilis when destructive lesions of bone are seen in an infant

Comparisons were made between 54 children with resolving congenital talipes equinovarus deformity and 81 children whose feet required surgical correction. There was a significant difference in the incidence of bilateral deformity, sex ratio and family history of congenital talipes in the two groups. The children with resolving deformity had feet which were indistinguishable from the normal side of unilaterally affected children in their calf muscle measurements at six weeks of age, and in the range of movement and radiographs at four years of age. Those requiring surgery had varying degrees of muscle reduction, and although often well corrected, had a reduced range of movement and altered joint anatomy at four years of age. This suggests that they are two distinct populations

1. The problem of instability of reduction in congenital dislocation and congenital subluxation of the hip has been studied and it has been concluded that the basic cause of this instability is the abnormal direction in which the entire acetabulum faces. 2. An operation, innominate osteotomy, has been designed to correct the abnormal direction of the entire acetabulum in children over the age of eighteen months. The principle of innominate osteotomy is redirection of the acetabulum so that the reduced dislocation or subluxation, which previously was stable only in a position of abduction and flexion, is rendered stable in the functional position of weight bearing. 3. The operative technique, and the pre-operative and post-operative management are described. 4. The indications for innominate osteotomy are outlined and the advantages of the operation are enumerated. 5. The early results of innominate osteotomy are very encouraging

We have reviewed the results in 37 patients with unilateral congenital short femur (Pappas classes III to IX), treated by different lengthening procedures. The increase in the length of the femur varied from 15.6% to 142%, excellent or good results being obtained in 32 patients (86%). There was an average of 1.9 complications per case, most being seen earlier in the series when the Wagner technique was used. With the Orthofix and the Ilizarov techniques, we used callus distraction in all cases. We found that the proximal diaphysis of the congenitally abnormal femur healed less well, and we now prefer to perform corticotomy and callus distraction of the distal metaphysis. The Ilizarov method gave the best results, offering the possibilities of the simultaneous use of a Hoffmann fixator across the hip and the treatment of knee dislocation and instability

Van Nes rotationplasty may be used for patients with congenital proximal focal femoral deficiency (PFFD). The lower limb is rotated to use the ankle and foot as a functional knee joint within a prosthesis. A small series of cases was investigated to determine the long-term outcome. At a mean of 21.5 years (11 to 45) after their rotationplasty, a total of 12 prosthetic patients completed the Short-Form (SF)-36, Faces Pain Scale-Revised, Harris hip score, Oswestry back pain score and Prosthetic Evaluation Questionnaires, as did 12 age- and gender-matched normal control participants. A physical examination and gait analysis, computerised dynamic posturography (CDP), and timed ‘Up & Go’ testing was also completed. Wilcoxon Signed rank test was used to compare each PFFD patient with a matched control participant with false discovery rate of 5%. There were no differences between the groups in overall health and well-being on the SF-36. Significant differences were seen in gait parameters in the PFFD group. Using CDP, the PFFD group had reduced symmetry in stance, and reduced end point and maximum excursions. Patients who had undergone Van Nes rotationplasty had a high level of function and quality of life at long-term follow-up, but presented with significant differences in gait and posture compared with the control group. Cite this article: Bone Joint J 2013;95-B:192–8

A long-term review of 131 children fitted with upper limb prostheses at the Ontario Crippled Children's Centre between 1965 and 1975 is reported. There were 116 children with congenital deficiencies and 15 who had had amputations. Follow-up ranged from 7 to 17 years. A total of 42 children had abandoned their prostheses, 37 of whom had congenital deformities and five were amputees. The level of deficiency was of fundamental importance in determining whether the prosthesis would be accepted; in the forearm, the longer the stump, the more likely it was that the child would discard the prosthesis. Overall, 50 per cent of children fitted over the age of two years abandoned their prostheses compared with only 22 per cent of patients who had been fitted before the age of two years. The highest drop-out rate was at the age of 13 years when the children became more conscious of their cosmetic appearance. Suggestions for reducing the high drop-out rate in the early teens are put forward

We report a prospective study of the feasibility of employing specially trained physiotherapists to screen neonates for congenital dislocation of the hip. During ten years 42,241 babies were screened, using clinical tests; 255 were diagnosed and treated by a Pavlik harness. In the same period 13 children presented late with congenital dislocation of the hip which had not been detected by the screening programme

In this study we evaluated the results of midtarsal release and open reduction for the treatment of children with convex congenital foot (CCF) (vertical talus) and compared them with the published results of peritalar release. Between 1977 and 2009, a total of 22 children (31 feet) underwent this procedure. In 15 children (48%) the CCF was isolated and in the remainder it was not (seven with arthrogryposis, two with spinal dysraphism, one with a polymalformative syndrome and six with an undefined neurological disorder).

Pre-operatively, the mean tibiotalar angle was 150.2° (106° to 175°) and the mean calcaneal pitch angle was -19.3° (-72° to 4°). The procedure included talonavicular and calcaneocuboid joint capsulotomies, lengthening of tendons of tibialis anterior and the extensors of the toes, allowing reduction of the midtarsal joints. Lengthening of the Achilles tendon was necessary in 23 feet (74%).

The mean follow-up was 11 years (2 to 21). The results, as assessed by the Adelaar score, were good in 24 feet (77.4%), fair in six (19.3%) and poor in one foot (3.3%), with no difference between those with isolated CCF and those without. The mean American Orthopaedic Foot and Ankle Society midfoot score was 89.9 (54 to 100) and 77.8 (36 to 93) for those with isolated CCF and those without, respectively. At the final follow-up, the mean tibiotalar (120°; 90 to 152) and calcaneal pitch angles (4°; -13 to 22) had improved significantly (p < 0.0001). Dislocation of the talonavicular and calcaneocuboid joints was completely reduced in 22 (70.9%) and 29 (93.6%) of feet, respectively. Three children (five feet) underwent further surgery at a mean of 8.5 years post-operatively, three with pes planovalgus and two in whom the deformity had been undercorrected. No child developed avascular necrosis of the talus.

Midtarsal joint release and open reduction is a satisfactory procedure, which may provide better results than peritalar release. Complications include the development of pes planovalgus and persistent dorsal subluxation of the talonavicular joint.

Cite this article: Bone Joint J 2014;96-B:837–44.

The hips of twenty full-term African neonates have been examined in detail to determine any anatomical factors which might explain the difference in the incidence of congenital dislocation of the hip in the African and in the Caucasian. Measurements included the degree of anteversion of the femoral neck and the acetabulum and the diameter and depth of the acetabulum. The acetabulum tended to be deeper and to vary within a much narrower range than that reported for Caucasians, lending indirect support to the theoretical role of acetabular dysplasia in the aetiology of congenital dislocation of the hip. Measurements of the anteversion of the acetabulum and femoral neck were similar to those given for Caucasians

The term "congenital scoliosis" contributes little to our understanding of aetiology, for "congenital" simply means "to be born with" and is applicable to deformities present at birth whether these are genetically determined or acquired in utero. The presentation of monozygotic twins, one of whom has congenital scoliosis (vertebral anomalies) while the other is normal, provides a rare opportunity to study the cause of this deformity. Three pairs of monozygotic twins, previously unreported, are presented with a review of the previous literature. These cases add weight to the argument that congenital scoliosis may be acquired in utero rather than being genetically determined

Thirteen patients with congenital hypoplasia of the carpal scaphoid and associated abnormalities have been described and the significance of the condition discussed

We reviewed the serial radiographs of 54 hips in 47 children treated by closed reduction for congenital dislocation of the hip and followed to at least 14 years of age, to determine the causes of acetabular dysplasia. We excluded hips with femoral head deformity or residual subluxation and compared the results with those from a control series of unaffected hips of patients with unilateral CDH. Acetabular development after the age of 11 or 12 years was significantly worse in Severin group III than in Severin group I hips on the affected side or Severin group III in unaffected control hips. One of the causes of acetabular dysplasia at maturity was found to be impairment of acetabular development after 11 or 12 years of age. This may be attributable to impaired secondary ossification in the acetabular rim. Our findings emphasise the importance of continuing the follow-up of patients treated for congenital dislocation of the hip until full skeletal maturity

Operative correction of congenital vertical talus in nine feet in six patients is described. The operation consists of the comprehensive lengthening of the tendons in the foot and full peritalar release without excision of the navicular; it is performed through a dorsal transverse incision

We report on a radiographic screening programme at four months of age for infants who were clinically normal at neonatal examination but were considered to be 'at risk' for congenital dislocation of the hip because of their family history, breech presentation, or a persistent click. From a total population of 13,662 live births over a two-year period, 357 (2.6%) infants at risk were identified. Of these 46 had abnormal radiographs (six subluxations, 40 acetabular dysplasia). In 12 infants treatment resulted in a normal hip; 34 required no treatment but were followed up until their radiographs were normal and walking had begun. Of the 311 infants with normal radiographs, 256 (82%) were examined after 15 months of age; none had any detectable abnormality. We suggest that radiography of the hip at four months is a valuable adjunct to neonatal screening for infants at increased risk of congenital dislocation of the hip

We reviewed 33 patients (35 hips) after open reduction of congenital dislocation of the hip using Ludloff’s medial approach. The mean age at the time of operation was 14 months (5 to 29) and at the time of final follow-up 20.1 years (15 to 24) giving a mean duration of follow-up of 19.4 years (14 to 23). We evaluated the radiological results by the Severin classification and the extent of avascular necrosis using the criteria of Kalamchi. At the latest review 16 hips (45.7%) were in Severin groups I or II (acceptable results) and 19 (54.3%) in Severin groups III, IV or V (unacceptable results). There was evidence of avascular necrosis in 15 hips (42.9%). The radiological results began to become worse at about the age of ten years when type-II avascular changes presented. We conclude that Ludloff’s medial approach for open reduction is unsatisfactory for the treatment of congenital dislocation since about half of our patients required additional operations

1. A case of congenital indifference to pain in a boy aged fifteen years is described. The boy's sister was similarly affected. 2. Clinical features and treatment are described, and the features are compared with those in previously reported cases. 3. Causation is discussed in the light of the negative findings at necropsy on the patient's sister

A review of seventy-one children with sacral anomalies is presented. The aetiology is discussed and a classification of sacral anomalies is suggested, with three groups of patients: agenetic, dysgenetic and dysraphic. The clinical presentation of each group is discussed and the high incidence of congenital visceral and skeletal abnormalities is indicated in the dysgenetic group. The need for constant urological assessment is emphasised, particularly in the agenetic and dysraphic children

Seventy patients with 91 congenital short femora are classified. Deformities resulting maternal Thalidomide treatment are compared with those where Thalidomide was not involved and genetic and epidemiological factors investigated in 50 patients. No essential anatomical difference was found between the two groups of femora but the whole complex of abnormalities differed: the Thalidomide group showed femur-tibia-radius anomalies while the non-Thalidomide garoup had femur-fibula-ulna anomalies, indicating either different aetiological factors or different timing of the insult to the foetus. Some differences between congenital coxa vara and congenital short femur associated with coxa vara are mentioned. Simple hypoplasia of the femur may possibly have a multifactorial genetic background since it is associated with other minor abnormalities of the limbs in these families, whereas environmental factors only are associated with the more severe femoral defects

A new concept of the etiology of congenital dislocation of the hip, which states that the process is simply an accident, is presented. It is observed that the diagnosis should be made at birth. The importance of obtaining movement of the hip, after the reduction has been stabilised, is stressed. Contact and function are mandatory for the natural production of a normal hip. A mobile brace is described which allows a wide range of movement while safely maintaining reduction. The success of this method of treatment supports the conception of the etiology on which it is based

We investigated 60 patients (89 feet) with a mean age of 64 years (61 to 67) treated for congenital clubfoot deformity, using standardised weight-bearing radiographs of both feet and ankles together with a functional evaluation. Talocalcaneal and talonavicular relationships were measured and the degree of osteo-arthritic change in the ankle and talonavicular joints was assessed. The functional results were evaluated using a modified Laaveg-Ponseti score. The talocalcaneal (TC) angles in the clubfeet were significantly lower in both anteroposterior (AP) and lateral projections than in the unaffected feet (p < 0.001 for both views). There was significant medial subluxation of the navicular in the clubfeet compared with the unaffected feet (p < 0.001). Severe osteoarthritis in the ankle joint was seen in seven feet (8%) and in the talonavicular joint in 11 feet (12%). The functional result was excellent or good (≥ 80 points) in 29 patients (48%), and fair or poor (< 80 points) in 31 patients (52%). Patients who had undergone few (0 to 1) surgical procedures had better functional outcomes than those who had undergone two or more procedures (p < 0.001). There was a significant correlation between the functional result and the degree of medial subluxation of the navicular (p < 0.001, r. 2 . = 0.164), the talocalcaneal angle on AP projection (p < 0.02, r2 = 0.025) and extent of osteoarthritis in the ankle joint (p < 0.001). We conclude that poor functional outcome in patients with congenital clubfoot occurs more frequently in those with medial displacement of the navicular, osteoarthritis of the talonavicular and ankle joints, and a low talocalcaneal angle on the AP projection, and in patients who have undergone two or more surgical procedures. However, the ankle joint in these patients appeared relatively resistant to the development of osteoarthritis

1. An anatomical study of congenital club foot in various stages of foetal development is presented, and the literature is reviewed. 2. The most striking finding was deformity of the talus and in particular a change in its angle of declination. 3. That deformity was present in feet whose deformity could not be corrected by gentle manipulation; it was absent in feet whose deformity could be so corrected. 4. Abnormality of the tendon and insertion of the tibialis posterior muscle was found in most cases. 5. Speculations are advanced concerning the nature and cause of the talar deformity

1. Nineteen patients with congenital shortening of the femur without associated coxa vara have been examined and discussed. 2. The diagnosis is made on finding a short, bulky thigh, held in lateral rotation. The radiographs commonly show no abnormality apart from shortening, but delay in ossification of the head of the femur, with lateral bowing and cortical sclerosis of the shaft, are occasionally present. The overall shortening of the limb seldom exceeds three inches. 3. The place of various surgical procedures to control limb length is briefly discussed

We describe two patients with an atypical congenital kyphosis in which a hypoplastic lumbar vertebral body lay in the spinal canal because of short pedicles. There were no defects in the posterior elements, or any apparent instability of the facet joints. Both patients were treated successfully by anterior fusion to the levels immediately above and below the affected vertebra, and posterior fusion which extended one level more both proximally and distally. This gave progressive correction of the kyphotic deformity by allowing some continued anterior growth at the levels which had been fused posteriorly

The late results of treatment of 24 legs in 21 children with congenital deficiency of the tibia are presented. A new classification is proposed which correlates well with recommendations for treatment and with the final functional result. Three types of deficiency were recognised: Type I, total absence of the tibia; Type II, distal absence; Type III, distal deficiency with tibiofibular diastasis. The early radiographic appearances, the functional status of the quadriceps and the severity of flexion contracture of the knee were important factors in the selection of the operations likely to give the best function

We measured the range of rotation in both hips of 397 normal children and in the unaffected hip of 135 children with unilateral congenital dislocation of the hip. Both groups were assessed for generalised joint laxity. Joint laxity was more common in normal children with an internally centred arc of hip rotation than in normal children with a neutral or an externally rotated arc. The children with congenitally dislocated hips had significantly more joint laxity than did the control group and significantly more of them had an internally centred arc of hip rotation. We suggest that the lax joint capsule fails to mould away the neonatal anteversion of the femoral neck during the first few months of life

We performed nine metatarsal and three proximal phalangeal lengthenings in five patients with congenital brachymetatarsia of the first and one or two other metatarsal bones, by a one-stage combined shortening and lengthening procedure using intercalcary autogenous bone grafts from adjacent shortened metatarsal bones. Instead of the isolated lengthening of the first and the other metatarsal bones, we shortened the adjacent normal metatarsal and used the excised bone to lengthen the short toes, except for the great toe, to restore the normal parabola. One skin incision was used. All the operations were performed bilaterally and the patients were followed up for a mean period of 69.5 months (29 to 107). They all regained a nearly normal parabola and were satisfied with the cosmetic results. Our technique is straightforward and produces good cosmetic results. Satisfactory, bony union is achieved, morbidity is low, and no additional surgery is required for the removal of metal implants

We reviewed 13 patients with congenital insensitivity to pain. A quantitative sweat test was carried out in five and an intradermal histamine test in ten. DNA examination showed specific mutations in four patients. There were three clinical presentations: type A, in which multiple infections occurred (five patients); type B, with fractures, growth disturbances and avascular necrosis (three patients); and type C, with Charcot arthropathies and joint dislocations, as well as fractures and infections (five patients, four with mental retardation). Patient education, shoeware and periods of non-weight-bearing are important in the prevention and early treatment of decubitus ulcers. The differentiation between fractures and infections should be based on aspiration and cultures to prevent unnecessary surgery. Established infections should be treated by wide surgical debridement. Deformities can be managed by corrective osteotomies, and shortening by shoe raises or epiphysiodesis. Joint dislocations are best treated conservatively

1. One hundred cases of congenital elevation of the scapula are reviewed; thirty-four were treated by operation. 2. A method of grading of appearance is suggested to assist in selecting cases for operation. 3. In very mild cases operation does not confer worthwhile benefit. 4. Very severely affected patients cannot be made to look normal. 5. The appearance often deteriorates during a period of rapid growth of the neck, making continued observation and reassessment essential. 6. The primary aim of treatment is to improve appearance; improvement in function is uncertain. 7. Excision of the supero-medial part of the scapula, and of the omo-vertebral bone when present, is recommended in most cases requiring operation. It is safe and simple, with little risk of loss of function and with simple after-treatment

1. The "frame" or traction method of reduction of congenital dislocation of the hip is, from the evidence collected in this hospital, both more effective and safer than the manipulative method of reduction. The traction method caused less frequent and less severe lesions of the femoral head than the manipulative method. 2. In cases in which closed reduction failed, open reduction was attempted; the quality of the results depended mainly on the time of operation, the best being in patients operated upon a few weeks after the initiation of the frame treatment. 3. Even with its improved results, still about 40 per cent of cases treated by the frame method showed insufficient reduction or structural changes of the femoral head. 4. Arthrography may help in indicating those cases in which open reduction is desirable

1. A case of discoid medial cartilage is describe—the fifth so far recorded—and comparison is made with the previous cases in the literature. 2. The origin of the anomaly, its incidence and clinical features are discussed. 3. The view is expressed that discoid cartilage is a congenital lesion due to abnormal development, fibrocartilage being laid down in mesenchyme which normally disappears in the formation of the joint. It is not the effect of arrest of a normal process or persistence of a normal foetal state. The only time at which a cartilage may be said to be disc-shaped is in the earliest weeks of embryonic life, when the disc or plaque of undifferentiated mesenchyme is present between the developing bones. The central part of this mass disappears early, and the fibrocartilage develops in its peripheral portion. In a ten-weeks'-old embryo (37 millimetres) the cartilages were shown to have a crescentic shape like that of the adult cartilage

1. Attention is drawn to that type of rigid congenital flat foot in which the talus lies vertically instead of horizontally. 2. This deformity is rare, but if not treated successfully leads to an ugly, painful foot in adolescence. 3. The experience of five patients forms the basis of the present preliminary account. One adolescent and two young children under the age of five were treated unsuccessfully by both conservative and operative measures. More recently in two children with bilateral deformity open operation has been successful in restoring the shape of the foot. 4. The operation is essentially a reduction of a subluxation at the talo-navicular and subtalar joints. It entails freeing the head of the talus sufficiently to allow it to be lifted dorsally and laterally. The talus is then anchored in position by transplanting the distal end of the peroneus brevis tendon through the neck of the bone

1. An unusual case of bilateral and symmetrical congenital aplasia of the femur in a man of fifty is described. 2. The literature on the condition is reviewed and discussed

1. Twenty patients with congenital short tendo calcaneus are described. 2. All were treated by tendon lengthening and followed up for one and a half to seven years

We studied 24 children (40 feet) to demonstrate that a physiotherapist-delivered Ponseti service is as successful as a medically-led programme in obtaining correction of an idiopathic congenital talipes equinovarus deformity. The median Pirani score at the start of treatment was 5.5 (mean 4.75; 2 to 6). A Pirani score of ≥5 predicted the need for tenotomy (p < 0.01). Of the 40 feet studied, 39 (97.5%) achieved correction of deformity. The remaining foot required surgical correction. A total of 25 (62.5%) of the feet underwent an Achilles tenotomy, which was performed by a surgeon in the physiotherapy clinic. There was full compliance with the foot abduction orthoses in 36 (90%) feet. Continuity of care was assured, as one practitioner was responsible for all patient contact. This was rated highly by the patient satisfaction survey. We believe that the Ponseti technique is suitable for use by non-medical personnel, but a holistic approach and good continuity of care are essential to the success of the programme

1. Two cases of congenital diastasis of the inferior tibio-fibular mortise are described. 2. No previous description of this condition has been found in the literature. 3. it is suggested that the cause is osteochondrosis of the distal tibial epiphysis associated with a club foot

To determine the effect of cordotomy on the function of the bladder during surgical correction of congenital kyphosis in myelomeningocele, we reviewed 13 patients who had this procedure between 1981 and 1996. The mean age of the patients at operation was 8.9 years (3.7 to 16) and the mean follow-up was 4.8 years (1.3 to 10.8). Bladder function before and after operation was assessed clinically and quantitatively by urodynamics. The mean preoperative kyphosis was 117° (52 to 175) and decreased to 49° (1 to 89) immediately after surgery. At the latest follow-up, a mean correction of 52% had been achieved. Only one patient showed deterioration in bladder function after operation. Eight out of the nine patients who had urodynamic assessment had improvement in bladder capacity and compliance, and five showed an increase in urethral pressure. One patient developed a spastic bladder and required subsequent surgical intervention. Cordotomy, at or below the level of the kyphosis, allows excellent correction of the structural deformity

The outcome in 83 patients with congenital clubfoot was evaluated at a mean age of 64 years using three validated questionnaires assessing both quality of life (short-form (SF)-36 and EQ-5D) and foot and ankle function (American Academy of Orthopaedic Surgeons (AAOS) Foot and Ankle questionnaire). In SF-36, male patients scored significantly better than male norms in seven of the eight domains, whereas female patients scored significantly worse than female norms in two of the eight. Male patients scored better than male norms in both the EQ-5D index (p = 0.027) and visual analogue scale (VAS) (p = 0.013), whereas female patients scored worse than female norms in the VAS (p < 0.001). Both male and female patients had a significantly worse outcome on the AAOS Core Scale than did norms. There was a significant correlation for both genders between the SF-36 Physical Component Summary Score and the AAOS Core Scale. The influence on activities of daily life was limited to foot and ankle problems in all patients, and in females there was an adverse effect in physical aspects of quality of life

1. It is suggested that the obstruction causing delayed reduction of the congenitally dislocated hip is the infolded limbus. 2. An operation is described by which the infolding limbus may be easily and safely removed. 3. The early results of the operation are reported. 4. The evidence for the original assumption is discussed

1. Four cases of congenital lateral dislocation of the patella are described. 2. The significance of the associated flexion contracture is emphasised. 3. Early diagnosis and operative realignment of the extensor mechanism is considered to be important because it should avoid the secondary growth changes which can produce serious disability