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

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. As an increasing number of female surgeons are choosing orthopaedics, it is important to recognize the impact of pregnancy within this cohort. The aim of this review was to examine common themes and data surrounding pregnancy, parenthood, and fertility within orthopaedics. Methods. A systematic review was conducted by searching Medline, Emcare, Embase, PsycINFO, OrthoSearch, and the Cochrane Library in November 2022. The Preferred Reporting Items for Systematic Reviews and Meta Analysis were adhered to. Original research papers that focused on pregnancy and/or parenthood within orthopaedic surgery were included for review. Results. Of 1,205 papers, 19 met the inclusion criteria. Our results found that orthopaedic surgeons have higher reported rates of obstetric complications, congenital abnormalities, and infertility compared to the general population. They were noted to have children at a later age and voluntarily delayed childbearing. Negative perceptions of pregnancy from fellow trainees and programme directors were identified. Conclusion. Female orthopaedic surgeons have high rates of obstetric complications and infertility. Negative perceptions surrounding pregnancy can lead to orthopaedic surgeons voluntarily delaying childbearing. There is a need for a pregnancy-positive culture shift combined with formalized guidelines and female mentorship to create a more supportive environment for pregnancy within orthopaedic surgery. Cite this article: Bone Joint J 2023;105-B(8):857–863

Guided growth is commonly performed by placing an extra-periosteal two-hole plate across the growth plate with one epiphyseal and one metaphyseal screw. Recent work by Keshet et al. (2019) investigated the efficacy of the removal of the metaphyseal screw only (“sleeper plate”) after correction. They concluded the practice to be unnecessary as only 19% of patient show recurrence of deformity. The aim of this study is to examine the incidence of rebound and undesired bony in-growth of the plate (“tethering”) after metaphyseal screw removal only. In this retrospective case series, patient data on 144 plates inserted around the knee was obtained. Plates still in situ (n=69) at time of study and full hardware removal (n=50) were excluded. The remaining 25 plates had a metaphyseal screw only removed after deformity correction. We analyzed the rate of re-bound, tethering and maintenance of correction in two age groups at latest follow-up for a mean of 3.5 years (1.25 to five). Fisher's exact test with Freeman-Halton extension was used to analyze the two by three contingency table. Twenty-five plates were identified as “sleeper plates” in our series. 13 plates (52%) maintained the achieved correction after a mean of 21 months (four to 39), nine plates (36%) required screw re-insertion due to rebound after a mean of 22 months (12-48) from screw removal, and four plates (16%) showed tethering with undesired continuation of guided growth after a mean of 14 months (seven to 22) from screw removal. Younger patients (years at time of plate insertion) had higher rates of rebound and tethering (p=.0112, Fisher's exact test). All Tethering occurred in titanium plates, none occurred in steel plates. The sleeper plate is an acceptable treatment strategy for coronal deformities around the knee. Rebounding and tethering are potential outcomes that occur in younger patients and should be disclosed to patients; titanium plates may increase the risk of tethering, however further long-term follow-up is needed. We stress the importance of close post-operative follow up to identify tethering early and prevent over correction. The sleeper plate technique is a viable option in younger children with congenital abnormalities, however, continued monitoring of alignment is necessary after screw removal to check for rebound and tethering

Osteoarthritis (OA) is mainly caused by ageing, strain, trauma, and congenital joint abnormalities, resulting in articular cartilage degeneration. During the pathogenesis of OA, the changes in subchondral bone (SB) are not only secondary manifestations of OA, but also an active part of the disease, and are closely associated with the severity of OA. In different stages of OA, there were microstructural changes in SB. Osteocytes, osteoblasts, and osteoclasts in SB are important in the pathogenesis of OA. The signal transduction mechanism in SB is necessary to maintain the balance of a stable phenotype, extracellular matrix (ECM) synthesis, and bone remodelling between articular cartilage and SB. An imbalance in signal transduction can lead to reduced cartilage quality and SB thickening, which leads to the progression of OA. By understanding changes in SB in OA, researchers are exploring drugs that can regulate these changes, which will help to provide new ideas for the treatment of OA. Cite this article: Bone Joint Res 2023;12(9):536–545

Treatment of large bone defects represents a great challenge for orthopedic surgeons. The main causes are congenital abnormalities, traumas, osteomyelitis and bone resection due to cancer. Each surgical method for bone reconstruction leads its own burden of complications. The gold standard is considered the autologous bone graft, either of cancellous or cortical origin, but due to graft resorption and a limitation for large defect, allograft techniques have been identified. In the bone defect, these include the placement of cadaver bone or cement spacer to create the ‘Biological Chamber’ to restore bone regeneration, according to the Masquelet technique. We report eight patients, with large bone defect (for various etiologies and with an average size defect of 13.3 cm) in the lower and upper limbs, who underwent surgery at our Traumatology Department, between January 2019 and October 2020. Three patients were treated with both cortical and cancellous autologous bone grafts, while five received cortical or cement spacer allografts from donors. They underwent pre and postoperative radiographs and complete osseointegration was observed in all patients already undergoing monthly radiographic checks, with a restoration of length and range of motion. In our study, both the two stage-Masquelet and the cortical bone graft from a cadaver donor proved to be valid techniques in patients with very extensive defects to reconstruct the defect, restore the length, minimize implant left in situ and achieve complete functional recovery

Complex congenital foot deformities pose a challenge to the surgeon due to poor results after extensive surgery. We report the clinical outcomes of children with complex congenital foot deformities treated with UMEX® (Universal mini-external fixator System) frames. This is a prospective review of our experience in patients treated in this way, from 2004 to 2011. The indications for treatment included resistant/recurrent Congenital Talipes Equino Varus (CTEV), cavo-varus deformity secondary to Charcot-Marie-Tooth disease, arthrogryposis, fibular hemimelia and other congenital abnormalities. A total of 32 children (35 feet) have been treated, out of which 22 were male and 10 were female patients. Age at surgery ranged from 3 to 15 years (median age – 7 years). Three patients underwent bilateral procedures; the reminder (29 patients) underwent unilateral foot operations. Twenty-eight patients had undergone previous surgery including soft-tissue and/or bony corrective procedures. The frames were removed at an average of 69 days after application, and the patients spent a further 6 weeks in a walking cast. Good functional outcomes were noted in 26 patients in the first postoperative year and in 19 patients in the fifth postoperative year. Further operations were needed in 10 patients. Complications occurred in 10 patients, predominantly pin-site infections and 1 case of bony overgrowth at pin-site and 1 of proximal tibio-fibular diastasis. This is a simple fixator to use with a short learning curve. In groups of patients with complex congenital abnormalities, we achieved good functional outcome with low-complication rates

We report the clinical outcomes of children with complex congenital foot deformities treated with UMEX® mini-external fixators. This is a prospective review of our experience in patients treated in this way, from 2004. The indications for treatment were resistant/recurrent Congenital Talus Equina Varus(CTEV), cavo-varus deformity secondary to Charcot-Marie-Tooth disease, arthrogryposis, fibular hemimelia and other congenital abnormalities. In addition, one patient underwent this treatment since he was allergic to casting material. A total of 32 children (35 feet) have been treated, with a male to female ratio of 22:10 respectively. The patient-age at operation ranged between 3 and 15 years (median age −7 years). Three patients underwent bilateral procedures and 29 patients underwent unilateral foot operations. Twenty-eight patients underwent previous soft-tissue and bony corrective operations with serial casting. The frames were removed at an average of 69 days after application with a further 6 weeks in a walking cast. Seventy-nine percent of the patients had good functional outcome. Further operations were needed in 10 patients. Complications occurred in 10 patients, including pin-site infections, bony overgrowth at pin-site and proximal tibio-fibular diastasis. In conclusion, this is a simple fixator to use with a small learning curve. In groups of patients with complex congenital abnormalities, we achieved good functional outcome with low-complication rates

1. The results of the by-pass grafting operation in eleven cases of pseudarthrosis of the tibia in childhood are presented. 2. The operation was successful in securing sound bone union in nine cases, and unsuccessful in two. 3. The causes of failure in the two unsuccessful cases are analysed. 4. The possible causes of occurrence and persistence of tibial pseudarthrosis in childhood are discussed. 5. It is suggested that the pseudarthrosis results from a fatigue fracture of a congenitally abnormal tibia, but that its persistence depends entirely on mechanical factors. 6. There is evidence to suggest that the underlying congenital abnormality may arise from dysplasia of the mesenchyme

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

Background: The incidence of intra-spinal abnormality in congenital scoliosis is high. McMaster et al found an 18% incidence of myelographic abnormality in a series of 251 patients. Our objective was to report the MRI findings in a large series of patients with congenital scoliosis. Method: The notes, X-rays and MRI of 126 congenital scoliosis patients were reviewed to note the vertebral abnormality, curve progression, MRI findings and the presence of non-spinal congenital abnormality. These findings were then correlated to detect any association between them. Result: Forty-six patients (37%) had intra-spinal abnormalities detected on MRI. Sixty-six patients had failure of formation, 10 had failure of segmentation, 34 had mixed vertebral anomaly and 16 had congenital kyphosis or dislocation. MRI abnormality was significantly higher among patients with mixed anomaly (41%), congenital kyphosis (57%) and segmentation anomaly (40%) than those with failure of formation (29%). Presence of MRI abnormality did not correlate with curve progression or the presence of congenital abnormality affecting other organs. Conclusion: Intra-spinal abnormality in congenital scoliosis occurred in 37% cases. The incidence of such abnormality is higher in patients with congenital kyphosis, failure of segmentation and mixed vertebral anomalies

Incidence of Congenital talipes equino varus [CTEV] is 1 to 2 per 1000 birth, Out of all cases 20% cases are Non-idiopathic. The management of non-idiopathic CTEV, however, continues to be challenging due to Rigidity, Poor skin condition, Bony changes, Vascularity and Associated congenital abnormalities. In recent literature, short term results of Ponseti method for correction of non-idiopathic CTEV have been encouraging. As Ponseti method decreases the severity of deformity and hence decreases the need for extensive surgery. The aim of current study is to evaluate the results of Ponseti method in Non-idiopathic CTEV. Total 7 children below the age of one year with Non idiopathic clubfoot presented to us in the duration of 2013 to 2015 who were treated by us. The cases included are Streeters Dysplasia with congenital constriction rings 3, Arthrogryposis multiplex congenita with Developmental dysplasia of hip 2, Arthrogryposis multiple congenita spina Bifida 1, Pierre Robinson Syndrome with Ichthiosis 1. Initially all the patients treated with Ponseti casting technique and scoring was done using modified pirani scoring. At an average we could correct the foot from Pirani 7 to 2.5 with a relapse in 4 patients. 2 patients were treated again by Ponseti's method with success while treatment was discontinued in 2 feet. We recommended Ponseti's technique in Syndromic clubfoot as an non-surgical initial modality with good results given. The final outcome may depend more on the underlying condition than the CTEV

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

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

Aims

Children with spinal dysraphism can develop various musculoskeletal deformities, necessitating a range of orthopaedic interventions, causing significant morbidity, and making considerable demands on resources. This systematic review aimed to identify what outcome measures have been reported in the literature for children with spinal dysraphism who undergo orthopaedic interventions involving the lower limbs.

A bilateral congenital abnormality of the trapezium and first metacarpal is described. The condition may be related to abnormal ossification of the trapezium in accordance with Pfitzner's plan. It is quite distinct from osteoarthritis of the trapezio-metacarpal joints

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

1. Delta phalanx is a rare congenital abnormality not to be confused with other forms of angular deformity of the phalanges. 2. The deformity needs radical treatment by repeated surgery because there is no tendency to spontaneous correction and growth of the phalanx is prevented by the epiphysial deformity

1. Five patients are reported in whom osteochondritis is shown to have given rise to anterior intervertebral fusion. 2. It is suggested that anterior intervertebral fusion discovered in radiographs of adult spines may arise from osteochondritis rather than from a congenital abnormality or infection