两名患有透明隔腔、穹窿腔、巨头畸形、癫痫和智力迟钝的男性同胞。一种新的遗传综合征？
Two male siblings with cavum septum pellucidum, cavum vergae, macrocephaly, seizures and mental retardation. A new hereditary syndrome?
作者信息
Sánchez O, Nastasi J, Escalona J, Guerra D
机构信息
Unidad de Genética Médica, Escuela de Medicina, Universidad de Oriente, Ciudad Bolivar, Venezuela.
出版信息
Clin Dysmorphol. 1997 Apr;6(2):129-32.
PMID:9134292
Abstract
We report two brothers from non-consanguineous parents who share a particular constellation of clinical and radiographic findings, including macrocephaly, mental retardation and seizures as well as megalencephaly, cavum septum pellucidum and persistence of cavum vergae. The similar characteristics of these two brothers suggest a hereditary syndrome.
摘要
我们报告了来自非近亲父母的两兄弟，他们具有一系列特定的临床和影像学表现，包括巨头畸形、智力迟钝和癫痫，以及巨脑回、透明隔腔和穹窿腔持续存在。这两兄弟的相似特征提示一种遗传性综合征。
Zotero 插件