Pfeiffer R A, Hirschfelder H, Rott H D
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen, Nürnberg, Germany.
Clin Dysmorphol. 1995 Jan;4(1):38-43.
A facio-renal-acromesomelic syndrome is reported in a 15-year-old boy with normal intelligence. The main dysmorphic features are a large head and congenital ptosis with telecanthus. There is unilateral ureteral stenosis with hydronephrosis. Bone abnormalities consist of ulnar dysplasia and tibial hypoplasia, multiple synostoses of carpal and tarsal bones, proximal synostoses of metatarsals, and of brachydactyly. A similar case has not been published.
本文报道了一名15岁智力正常男孩患有面-肾-肢端中胚层发育不全综合征。主要的畸形特征为大头畸形以及伴有内眦距增宽的先天性上睑下垂。存在单侧输尿管狭窄并伴有肾积水。骨骼异常包括尺骨发育不全和胫骨发育不全、腕骨和跗骨多处关节融合、跖骨近端关节融合以及短指畸形。类似病例尚未见报道。
