title: [A case of severe form of dysplasia epiphysialis punctata with a histological study].
mesh_terms: D001846:Bone Development; D002356:Cartilage / Q000473:pathology; D002386:Cataract / Q000151:congenital; D002806:Chondrodysplasia Punctata / Q000473:pathology*; D004838:Epiphyses / Q000032:analysis / Q000000981:diagnostic imaging; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006025:Glycosaminoglycans / Q000032:analysis; D006618:Hip Dislocation, Congenital / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007642:Keratosis / Q000209:etiology; D007738:Kyphosis / Q000209:etiology; D017880:Limb Deformities, Congenital; D011859:Radiography
chemical_list: D006025:Glycosaminoglycans
vernacular_title: Un cas de forme majeure de maladie des épiphyses ponctuées avec étude histologique.