Article
Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
Clinical dysmorphology - 1 Jul 2004
Holder-Espinasse Muriel, Fayoux Pierre, Morillon Sandrine, Fourier Catherine, Dieux-Coeslier Anne, Manouvrier-Hanu Sylvie, Le Merrer Martine, Hall Christine M
Abstract excerpt
The spondyloepimetaphyseal dysplasias (SEMD) are a large, genetically heterogeneous group of disorders of variable severity, which are classified according to their clinical and radiological features. SEMD with multiple dislocations (Hall type) has been recently delineated (MIM 603546). This condition is characterized by striking epiphyseal and metaphyseal changes in the long bones, joint laxity, multiple...
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