无精神运动发育迟缓的类马登-沃克综合征：一名近亲结婚父母所生巴西女孩的病例报告
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
作者信息
van den Ende J J, van Bever Y, Rodini E S, Richieri-Costa A
机构信息
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
出版信息
Am J Med Genet. 1992 Feb 15;42(4):467-9. doi: 10.1002/ajmg.1320420411.
PMID:1609830
Abstract
We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.
摘要
我们报告了一名巴西女孩，其父母为近亲结婚，患有多种先天性异常（MCA）综合征，主要特征为睑裂狭小、腭裂和蜘蛛指。涉及该患者的临床情况提示一种明显未被描述的“新的”常染色体隐性综合征。
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