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

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

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

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

Twelve closely related members of one family were found to have small or absent patellae. Seven of these patients also had abnormalities of the pelvic girdle and upper femora. There was a resemblance to the nail--patella syndrome in the patellar abnormalities but not in the associated conditions, and it would therefore appear that the syndrome described is a new variety of congenital abnormality of the knee

A new method for the measurement of tibial torsion using computerised transverse tomography is presented. Its accuracy is equal to that of cadaveric skeletal measurement. This method may be used in patients with unilateral post-traumatic torsional deformities, especially when these are combined with genu varum or valgum. The study of torsional aberrations in connection with congenital abnormalities of the foot is of further interest

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

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

A simple procedure of using a Smillie knife to release the lateral patellar retinaculum and the capsule in the unstable patella syndrome is described. The syndrome includes recurrent dislocation, recurrent subluxation and acute dislocation of the patella. Arthroscopy, to exclude any other pathology such as chondromalacia patellae, is performed before proceeding to closed lateral release. The results of this procedure are as good as those after more major surgical procedures. In a small percentage of patients a second operation such as tibial tubercle transfer or patellectomy may be necessary, especially in patients with an underlying congenital abnormality; but in many patients this type of major surgery has proved unnecessary

The use of artificial intelligence (AI) is rapidly growing across many domains, of which the medical field is no exception. AI is an umbrella term defining the practical application of algorithms to generate useful output, without the need of human cognition. Owing to the expanding volume of patient information collected, known as ‘big data’, AI is showing promise as a useful tool in healthcare research and across all aspects of patient care pathways. Practical applications in orthopaedic surgery include: diagnostics, such as fracture recognition and tumour detection; predictive models of clinical and patient-reported outcome measures, such as calculating mortality rates and length of hospital stay; and real-time rehabilitation monitoring and surgical training. However, clinicians should remain cognizant of AI’s limitations, as the development of robust reporting and validation frameworks is of paramount importance to prevent avoidable errors and biases. The aim of this review article is to provide a comprehensive understanding of AI and its subfields, as well as to delineate its existing clinical applications in trauma and orthopaedic surgery. Furthermore, this narrative review expands upon the limitations of AI and future direction.

Cite this article: Bone Joint Res 2023;12(7):447–454.