脑颜面胸廓综合征
Cerebrofaciothoracic syndrome.
作者信息
Guion-Almeida M L, Richieri-Costa A, Saavedra D, Cohen M M
机构信息
Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Brazil.
出版信息
Am J Med Genet. 1996 Jan 11;61(2):152-3. doi: 10.1002/(SICI)1096-8628(19960111)61:2<152::AID-AJMG9>3.0.CO;2-Z.
Abstract
We report on a patient with a large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described with this distinctive phenotype. Autosomal recessive inheritance seems likely.
摘要
我们报告了一名患有大透明隔、灰质低密度、眼距过宽和肋椎异常的患者。此前仅有5例具有这种独特表型的病例被描述。该病似乎可能为常染色体隐性遗传。
Zotero 插件