© 2002 Journal of Medical Genetics
LETTER TO JMG
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance
1 Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
2 Department of Paediatric Genetics, Marmara University Hospital, 81190 Istanbul, Turkey
3 Department of Medicine, Addenbrooke’s Hospital, Cambridge, UK
4 Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Correspondence to:
Correspondence to:
Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK;
hallc@gosh.nhs.uk
Keywords: spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type); autosomal dominant inheritance
| The first 150 words of the full text of this article appear below. |
Three additional patients, including a father and daughter, with spondyloepimetaphyseal dysplasia and multiple dislocations are presented. This is the first report of dominant inheritance, with variable intrafamilial expressivity of this disorder. All patients showed facial dysmorphism with a short, broad, upturned nose. There were striking epiphyseal and metaphyseal changes of the long bones and joint laxity with multiple dislocations of the large joints, which were particularly incapacitating at the knees. This skeletal dysplasia showed some overlapping features with SPONASTRIME dysplasia, but with the addition of epiphyseal changes with abnormal articular bone modelling and premature osteoarthritis.
The spondyloepimetaphyseal dysplasias (SEMD) are a large group of disorders of variable severity, classified by their clinical and radiological manifestations. They are a genetically heterogeneous group of disorders.1,2 A recently delineated form is SEMD with multiple dislocations (MIM 603546).3 This is characterised by a generalised epiphyseal dysplasia, gracile metacarpals, a small carpus, and mild platyspondyly
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