[Dyssegmental dysplasia. Apropos of 2 familial cases with fatal development].
The authors report the cases of 2 sisters presenting with dyssegmental dwarfism. There were 2 other girls in the siblings, one of which was most probably also concerned. These cases favor a recessive transmission of the disease which, thereby, should not be confused with Kniest's disease, as suggested by some authors.
D004392:Dwarfism / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D010375:Pedigree; D011859:Radiography
Dysplasie dyssegmentaire. A propos de 2 cas familiaux d'évolution létale.