Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type".
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.
Maroteaux
P
P
Unité de Recherches de Génétique Médicale (INSERM U.12), Hôpital des Enfants Malades, Paris, France.
Stanescu
R
R
Stanescu
V
V
Cousin
J
J
D004838:Epiphyses / Q000473:pathology*; D005260:Female; D005269:Femur / Q000473:pathology*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D013977:Tibia / Q000473:pathology