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Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type"
P Maroteaux1, R Stanescu, V Stanescu
1Unité de Recherches de Génétique Médicale (INSERM U.12), Hôpital des Enfants Malades, Paris, France.
European Journal of Pediatrics
|May 1, 1988
Abstract:
Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.