Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X-linked midline gene?

We report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X-linked gene involved in the organization of the embryonal midline. This particular mutant gene might be active in the schisis-morphogenesis phenomena occurring at the midline.