CNS MIDLINE ANOMALIES IN THE OPITZ G/BBB SYNDROME - REPORT ON 12 BRAZILIAN PATIENTS

被引：26

作者：

GUIONALMEIDA, ML ^{[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 / 43卷 / 06期

关键词：

OPITZ G/BBB SYNDROME; MCA/MR SYNDROME; DANDY-WALKER ANOMALY; CALLOSAL A/HYPOPLASIA; ENLARGED CISTERNA-MAGNA; ENLARGED 4TH VENTRICLE; IMPERFORATE ANUS;

D O I：

10.1002/ajmg.1320430603

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 12 Brazilian boys with the Opitz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy-Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome.

引用

页码：918 / 928

页数：11

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