[Achondrogenesis. Apropos of a case].
The authors report a new case of achondrogenesis, the study of which is principally directed towards the histopathological examination of the conjugal cartilage. A brief review of the literature recalls the main clinical, radiological and histopathological characteristics of this fatal chondrodysplasia transmitted by an autosomal recessive means. In addition to other features, it reveals the difficulty which may be experienced in differentiating between the two types (I and II). Finally, the differential diagnosis is briefly assessed, the problem being the elimination of other non-transmissible chondrodysplasias, in particular thanatophoric dwarfism, for the purpose of appropriate genetic counselling.
D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D002356:Cartilage / Q000473:pathology*; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis; D005269:Femur / Q000473:pathology; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis; D011859:Radiography
L'achondrogénèse. A propos d'une observation.