Aim. Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations. Patients and Methods. Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification. Results. Patellar aplasia was present in 4/90 (4%), and patellar hypoplasia in 77/90 (86%) of patients. The prevailing patellar shapes were type III, type IV and Hunter’s cap. No patellar shape genotype-phenotype association could be found. The malformations of the distal femur comprised shortening of the lateral femoral condyle in 46 out of 84 patients (55%), with a prominent anterior surface of the lateral femoral condyle in 47 out of 84 patients (56%) and a flat anterior surface of the medial femoral condyle in 78 out of 85 patients (92%). The trochlea was type A1 according to the Dejour classification in 79 out of 85 patients (93%). . Conclusion. An easily recognisable characteristic quartet of malformations consisting of patellar aplasiaor hypoplasia and the malformations of the distal femur was found in 22 out of 81 patients (27%), with the majority displaying at least three malformations. Take home message: The distinct malformations of the knee in nail patella syndrome are easily recognisable on conventional radiographs and lead to the correct interpretation of the aberrant morphology which is essential in the treatment of these patellofemoral disorders. Cite this article: Bone Joint J 2016;98-B:483–9

Background. Chronic acquired radial head dislocations pose a complex problem in terms of surgical decision making, especially if surgery has already previously failed. There are several underlying causes that should be investigated, including previous trauma resulting in a missed Monteggia fracture. Aim. To review the clinical and radiological outcomes for children up to 18 years of age, with a radial head dislocation treated with circular frame surgery. Method. A retrospective study was designed to identify patients from our departmental database who had undergone circular frame surgery to reduce the radial head during the past 6 years. Results. 20 patients were identified with a mean age of 11 years (3 – 17). Fourteen patients had a diagnosis of missed Monteggia fracture, three patients had Hereditary Multiple Exostoses, one had Nail Patella syndrome, one had Osteogenesis Imperfecta and one had rickets. The average delay between trauma and frame surgery was three years (0 – 7). All patients achieved union of their ulnar or radial osteotomy. The average frame duration was 167 days (61 – 325) and complications included delayed union and residual radial head subluxation. Thirteen patients achieved at least 40 degrees of supination, and 10 patients achieved at least 40 degrees of pronation. Eighteen patients achieved an arc of movement from full extension to at least 110 degrees of flexion. Eleven patients reported their pain level at final follow-up, of which 9 had no pain at all. Conclusion and Discussion. Circular frame surgery was a reliable and consistent method of reducing chronic radial head dislocations and improving function. Radiological appearances of mild residual subluxation of the radial head were clinically well tolerated and generally required no further treatment

Congenital Talipes Equinovarus (CTEV) occurs in approximately 1 in 1000 live births. Most cases occur as an isolated birth defect and are considered idiopathic. The widespread adoption of the Ponseti technique of serial casting followed by Achilles tenotomy and long term bracing has revolutionised the outcomes in CTEV. In most cases, plantigrade, flexible, pain-free feet may be produced without the need for extensive surgery. It is estimated that about 10% of cases of CTEV are not idiopathic. These feet are stiffer and more challenging to treat. In particular, there is little evidence in the literature concerning the efficacy of the Ponseti method in these cases. In our institution, a dedicated weekly Ponseti clinic has operated since 2005. To date 140 patients have been treated. We prospectively enter all details regarding their management onto an independent international database. The aim of this study was to audit the non-idiopathic cases of CTEV and to assess the effectiveness of the Ponseti technique in these challenging cases. Outcome measures included the Pirani score and eventual need for surgical intervention. We identified 29 cases (46 feet) with non-idiopathic CTEV. This comprises 21% of our workload. Seventeen were bilateral. The commonest diagnoses were neuromuscular conditions such as spina bifida (5 cases) and cerebral palsy (3 cases). There were 4 cases of Trisomy 21. Other causes included Nail Patella syndrome, Moebius syndrome, Larsen syndrome and Ito syndrome. In approximately 12% of cases, the underlying disorder remained undiagnosed despite thorough medical and genetic testing. In cases of non-idiopathic CTEV, the mean starting Pirani score was 5.5 (out of 6). After serial casting and Achilles tenotomy, the average score was 2.0. Twenty-one of 46 feet (46%) ultimately required further surgical intervention (mostly posteromedial release). We found that certain conditions were more likely to be successfully treated with the Ponseti method – these included conditions characterised by ligamentous laxity such as Trisomy 21 and Ehlers Danlos syndrome. All patients showed some improvement in Pirani score after serial casting. We believe that it is essential to attempt the Ponseti method of serial casting in all cases of CTEV. More than half of all non-idiopathic cases will not require further surgical intervention – and those that do are not as stiff thanks to the effects of serial casting. Thus, the surgery required is not as complex as it might otherwise have been. This is the largest series of its kind in the current medical literature