奥匹茨G/BBB综合征中的中枢神经系统中线异常：12例巴西患者的报告。
CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients.
作者信息
Guion-Almeida M L, 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 Aug 1;43(6):918-28. doi: 10.1002/ajmg.1320430603.
PMID:1415340
Abstract
We report on 12 Brazilian boys with the Optiz 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.
摘要
我们报告了12名患有Optiz G/BBB综合征的巴西男孩，他们伴有中枢神经系统中线异常，即丹迪-沃克畸形（2例患者）、枕大池增大（4例患者）、第四脑室增大（4例患者）和胼胝体发育不全/发育不良（2例患者）。这些体征清楚地表明中枢神经系统中线在Optiz G/BBB综合征中受累。
Zotero 插件