Dumitru Adrian, Costache Mariana, Lazaroiu Anca Mihaela, Simion George, Secara Diana, Cirstoiu Monica, Emanoil Alina, Georgescu Tiberiu Augustin, Sajin Maria
Department of Pathology, Emergency University Hospital, Bucharest, Romania.
Department of Obstetrics and Gynaecology, Emergency University Hospital, Bucharest, Romania.
Maedica (Bucur). 2016 Mar;11(1):80-83.
Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. In total, about 150 affected patients have been described in the literature. The diagnosis of this syndrome can be established after clinical examination. We present the clinical findings of a rare case of Fraser syndrome with lethal phenotype due to bilateral renal agenesis in a female stillborn.
弗雷泽综合征是一种罕见的常染色体隐性遗传病,其主要特征包括隐眼畸形、并指(趾)畸形、喉及泌尿生殖道畸形、颅面畸形、口面部裂、智力发育迟缓以及肌肉骨骼异常。文献中总共描述了约150例受累患者。该综合征的诊断可在临床检查后确立。我们报告了一例罕见的弗雷泽综合征致死表型病例,该病例为一名女性死产儿,因双侧肾缺如所致。