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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.

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