MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION - REPORT OF A BRAZILIAN GIRL BORN TO CONSANGUINEOUS PARENTS

被引：21

作者：

VANDENENDE, JJ ^{[1
]}

VANBEVER, Y ^{[1
]}

RODINI, ESO ^{[1
]}

RICHIERICOSTA, A ^{[1
]}

机构：

[1] UNIV SAO PAULO,HOSP PESQUISA & REABILITACAO LESOES LABIO PALATAIS,SERV GENET CLIN,POB 620,BR-17043 BAURU,SP,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 04期

关键词：

BLEPHAROPHIMOSIS; CLEFT PALATE; ARACHNODACTYLY; MARDEN-WALKER SYNDROME; NEW SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE; CONSANGUINITY;

D O I：

10.1002/ajmg.1320420411

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：467 / 469

页数：3

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