Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.
作者信息
Saal H M, Bulas D I
机构信息
Division of Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229, USA.
出版信息
Clin Dysmorphol. 1995 Jul;4(3):246-50.
PMID:7551162
Abstract
A unique case of a female born with four major malformations, ectrodactyly, diaphragmatic hernia, ventricular septal defect, and agenesis of the corpus callosum is reported. The patient had a normal birth weight, normal head circumference and a normal karyotype. There was no significant facial dysmorphism. The family history was unremarkable for birth defects, recurrent pregnancy loss, limb anomalies or consanguinity. We propose that this represents a new constellation of multiple malformations.
摘要
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