[Achondrogenesis type I and II and hypochondrogenesis (author's transl)].
A study is made of achondrogenesis in relation to four observations of early fatal development. One case corresponds to type I (Parenti-Fraccaro); another to type II (Langer-Saldino); the final two, brothers, seem to come under the variation of hypochondrogenesis. In this study, authors stress the heterogenous nature of lethal, neonatal (short-limb) nanisms of which currently include: Type I and II achondrogenesis, hypochondrogenesis, homozygote achondroplasia, classical Torrance-type and San Diego-type thanatophoric dysplasia.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D002356:Cartilage / Q000473:pathology; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000473:pathology; D011859:Radiography
Acondrogénesis, tipos I y II e hipocondrogénesis.