This is a case series of 25 patients with Multiple Epiphyseal Dysplasia (MED), a genetically determined disorder characterised by abnormal ossification of multiple epiphyses. The Nottingham Skeletal Dysplasia Clinic has run since 1966. In 1994 it combined with the Clinical Genetics Service providing care to patients from throughout the region. We collected data on MED patients with follow up of 1 to 41 years (average 12 years) and described their presenting symptoms, genetic, clinical and radiographic features. We followed the natural history and vast array of treatments. From the genetic point of view, 90% of patients counselled had typical AD-MED and 10% syndromic MED. Seven families opted to have testing. There were MATN3 mutations in 10% of the cohort, with marked intra-familial variability of phenotype. The average age at presentation was thirteen, with 80% of patients presenting before their sixteenth birthday. A third was seen because of a known family history of MED. Newly diagnosed index patients tended to present later. The most commonly affected joint at presentation was the hip and the most common knee deformity genu valgum. Symptoms progressed with time and joints not clinically affected at presentation became symptomatic later. Sixty percent of patients had further joint involvement within 10 years of diagnosis. Treatment ranged from orthotics to arthroplasty. Half of patients required surgical intervention at least once. Six patients underwent hip arthroplasty at an average age of 37. MED is a rare diagnosis but has significant impact on the quality of life of those diagnosed, who require the support of a multidisciplinary team from an early age. This is not only to help manage symptoms and preserve function, but also to counsel on the progressive nature and the genetic aspects of the disorder.
Carpometacarpal arthritis of the thumb is a common source of morbidity particularly in post-menopausal women. It is commonly and successfully treated by trapeziectomy with or without ligament reconstruction and tendon interposition. This randomised prospective study compared the results of trapeziectomy alone or combined with tendon interposition and ligament reconstruction in 125 patients. Each patient had subjective and objective assessment of thumb pain, stiffness and strength and were scored using the D.A.S.H. and P.E.M. scoring systems. Patients were assessed pre-operatively and at 3 months and 1 year after surgery. The results of the two procedures revealed statistically improved pain levels but there was no statistically significant difference between the two in terms of pain relief, stiffness, weakness, grip strength, keypinch and thumb key pinch as well as in the D.A.S.H. and P.E.M. scores. The study shows that in the short term soft tissue reconstruction in addition to a simple trapeziectomy provides no improved benefit to the patient.
With respect to glenoid neck malunion and rotator cuff injury, conservative treatment is often considered best for extra-articular glenoid neck fractures. More recent studies reveal that outcomes are not uniformly good, but the cause of poor outcomes has not been investigated. We reviewed nine patients who had sustained a glenoid neck fracture of the scapula within the last 10 years and who had been treated conservatively with immobilisation and then early active motion. Their functional and anatomical outcomes were analysed by clinical examination and validated scoring systems, including the Oxford questionnaire and Constant shoulder score. Plain radiographs and MRI studies were correlated with outcome. None of the nine patients was free of pain and some had poor Oxford and Constant scores. Pain was associated with glenoid malunion and evidence of subacromial bursitis and/or rotator cuff tendinopathy.
