Masuno M, Imaizumi K, Makita Y, Nakamura M, Kuroki Y
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Am J Med Genet. 1995 May 22;57(1):57-60. doi: 10.1002/ajmg.1320570113.
Setleis syndrome is characterized by bitemporal skin depressions resembling forceps marks, abnormalities of the eyelashes, and "leonine" facial appearance. The cause is unknown, although autosomal recessive inheritance has been proposed. Recently, two families were reported in which one of the parents of a patient with Setleis syndrome showed mild manifestations, suggesting autosomal dominant inheritance. We describe a 9-month-old Japanese boy with typical Setleis syndrome. His father, who has normal intelligence, has bitemporal focal dermal dysplasia but a normal face. His paternal second cousin also has Setleis syndrome. This family shows autosomal dominant inheritance including father-to-son transmission of Setleis syndrome with variable expressivity and reduced penetrance. Careful examination of the relatives of patients with Setleis syndrome is recommended.
塞特莱斯综合征的特征为双侧颞部皮肤凹陷，类似产钳压痕、睫毛异常以及“狮面”外观。病因不明，尽管有人提出其为常染色体隐性遗传。最近，有两个家庭被报道，其中塞特莱斯综合征患者的父母之一表现出轻微症状，提示为常染色体显性遗传。我们描述了一名患有典型塞特莱斯综合征的9个月大日本男孩。他智力正常的父亲有双侧颞部局灶性皮肤发育异常，但面部正常。他父亲的二表弟也患有塞特莱斯综合征。这个家族显示出常染色体显性遗传，包括塞特莱斯综合征从父亲传给儿子，具有可变表达和降低的外显率。建议对塞特莱斯综合征患者的亲属进行仔细检查。
