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

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

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

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

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.

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

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

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

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

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

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

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

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

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

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 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