A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations

Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twe...

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Bibliographic Details
Published in:Journal of medical genetics 1998-07, Vol.35 (7), p.566-572
Main Authors: Hall, C M, Elçioglu, N H, Shaw, D G
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Diseases of the osteoarticular system
Female
Humans
Infant, Newborn
Joint Dislocations - complications
Joint Dislocations - diagnostic imaging
Joint Dislocations - genetics
Knee Joint
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Osteochondrodysplasias - complications
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Phenotype
Radiography
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Description
Summary:Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and twenties, are of normal intelligence, show striking epiphyseal and metaphyseal changes of the long bones, and have joint laxity and multiple dislocations of large joints, which are particularly incapacitating at the knees. These three cases represent a sporadic, previously unreported skeletal dysplasia with spondyloepimetaphyseal distribution and multiple large joint dislocations.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.35.7.566