[Dyssegmental dwarfism--report on two cases (author's transl)].
Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000151:congenital* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome
Dyssegmentaler Zwergwuchs. Bericht über zwei Fälle.