[Short rib-polydactyly syndromes].
The authors report on a newborn which died only a few hours after birth. It manifested generalized dropsy and ascites, a central upper lip cleft, narrow thorax, severe dysraphia, short limbs but normal-length trunk, and brachydactyly. Particularly striking radiologic findings were the extremely short, horizontal ribs and a shortening of the long bones, with rounded calcification zones. On the basis of comparison with other cases of short rib-polydactyly syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly and the shortness of the tibiae was not as extreme as in typical cases.
D000328:Adult; D001842:Bone and Bones / Q000473:pathology; D002358:Cartilage, Articular / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009999:Ossification, Heterotopic / Q000473:pathology; D010009:Osteochondrodysplasias / Q000473:pathology*; D012272:Ribs / Q000473:pathology; D012779:Short Rib-Polydactyly Syndrome / Q000473:pathology*
Short rib-polydactyly syndromes.