Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.

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.