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
收藏
页码：918 / 928
页数：11
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