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Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance
  1. C M Hall1,
  2. N H Elcioglu2,
  3. K D MacDermot3,
  4. A C Offiah1,
  5. R M Winter4
  1. 1Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK
  2. 2Department of Paediatric Genetics, Marmara University Hospital, 81190 Istanbul, Turkey
  3. 3Department of Medicine, Addenbrooke’s Hospital, Cambridge, UK
  4. 4Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
  1. Correspondence to:
 Dr C M Hall, Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK;

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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 with vertebral end plate irregularity.

SPONASTRIME dysplasia, first described by Fanconi et al4 in 1983, was further delineated by Langer et al in 19975 and falls into the SMD group of disorders. The word “SPONASTRIME” is a mnemonic from spondylar and nasal changes with striations of the metaphyses. Patients with SPONASTRIME dysplasia show striking midface and nasal hypoplasia. Characteristic changes in the shape of the vertebral bodies with time are the most consistent diagnostic criteria. Inheritance is autosomal recessive.

Patients with SEMD with multiple dislocations and patients with SPONASTRIME dysplasia both have metaphyseal irregularity and develop sclerotic, short, longitudinal striations in the metaphyses.


Case 1

Case 1 was the first child of healthy, unrelated parents of normal stature. Birth weight was 3100 g at 41 weeks’ gestation following induction of labour and a normal delivery. There was stridor soon after birth and at …

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