Ectrodactylycomma; diaphragmatic herniacomma; congenital heart defectcomma; and agenesis of the corpus callosum

摘要

A unique case of a female born with four major malformation, ectrodactyly, diaphragmatic hernia ventricular septal defect, and agencies of the coypus 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.