Singh Renu, Tandon Indu, Deo Sujata
Department of Obstetrics and Gynecology, King Georges Medical University, Lucknow, India.
Indian Pediatr. 2007 Dec;44(12):929-30.
Fraser syndrome is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, genitourinary mal-formations and mental retardation. We report a family with affected child where the pregnant woman was referred at 24 weeks of gestation for termination of pregnancy. The aborted fetus showed typical findings suggestive of Fraser syndrome.
弗雷泽综合征是一种罕见的常染色体隐性疾病,具有典型特征,如隐眼畸形、并指(趾)畸形、生殖器模糊、泌尿生殖系统畸形和智力发育迟缓。我们报告了一个有患病儿童的家庭,该孕妇在妊娠24周时被转诊来终止妊娠。流产的胎儿表现出提示弗雷泽综合征的典型特征。