Fraser syndrome in a 96-year-old female
Fraser syndrome in a 96-year-old female
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DOI：
10.1093/ageing/afl109
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发表时间：
2006-11-01
期刊：
影响因子：
6.7
通讯作者：
Joseph, Illes
中科院分区：
文献类型：
--
作者：
Impallomeni, Mario;Subramanian, Deepak;Joseph, Illes
弗雷泽综合征是一种常染色体隐性遗传病，其预期寿命小于1年。主要表现为隐眼、耳、鼻和骨骼畸形、并指畸形、喉狭窄和泌尿生殖系统、肺、肝和中枢神经系统（CNS）畸形。我们报告的临床，实验室和验尸结果这一条件在一个老年妇女96岁。她是已知年龄最大的弗雷泽综合症患者。
Fraser syndrome is an autosomal recessive disorder in which the life expectancy is < 1 year. The main features are cryptoph-thalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). We report the clinical, laboratory and post-mortem findings of this condition in an elderly woman aged 96 years. She is the oldest known patient with Fraser syndrome.