Clark R D, Golabi M, Lacassie Y, Hall B, Seto S
Department of Pediatrics, Harbor/UCLA Medical Center, Torrance.
Am J Med Genet. 1989 Nov;34(3):354-7. doi: 10.1002/ajmg.1320340311.
Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.
塞特莱斯综合征是一种常染色体隐性疾病，其特征为面部“粗糙”、颞部皮肤发育不全、上睑双睫、下睑睫毛缺失、慢性结膜炎以及厚唇突出。此前曾报道过8名患有该综合征的波多黎各儿童。我们报告了3名非波多黎各裔且互不相关的患有塞特莱斯综合征的儿童（其中一名智力发育迟缓）。我们的两名患者患有肛门闭锁，此前未见相关报道。文中展示了该综合征表型随时间的演变情况。
