Dyssegmental dysplasia (report of two cases with a review of the literature).
Two cases of dyssegmental dysplasia, a rare lethal skeletal dysplasia in the newborn, are reported. Two different forms of dyssegmental dysplasia can be distinguished--the lethal Silverman type and the less severe Rolland-Desbuquois type. In this report, both cases are of the Silverman type. Histopathology of chondro-osseous tissue confirms the similarity in pathologic findings to Kniest dysplasia.
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000175:diagnosis*