Shebib S M, Reed M H, Shuckett E P, Cross H G, Perry J B, Chudley A E
Department of Pediatrics and Child Health, University of Manitoba, Canada.
Am J Med Genet. 1991 Jul 1;40(1):88-93. doi: 10.1002/ajmg.1320400118.
We report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11-S2; and dislocated hips. A literature search and use of a computer-assisted syndrome-identification program failed to uncover an identical case.
我们报告了一名患有一系列独特先天性异常的儿童,提示一种新的综合征。这些异常包括发育迟缓;颅面畸形,包括双侧白内障、上睑下垂、鼻正中沟、耳部畸形及相关的神经性听力损失;牙齿异常,表现为异常的牙尖形态,有不寻常的尖锐延伸以及出牙延迟;身材矮小,骨骺骨化明显延迟;第11胸椎至第2骶椎冠状裂;以及髋关节脱位。文献检索和使用计算机辅助综合征识别程序均未发现相同病例。