Genet Couns

Diaphragmatic hernia in the Coffin-Siris syndrome.

Year 1998
Delvaux V. Moerman P. Fryns JP.
University Hospital St-Rafael, Department of Pathology I, Leuven, Belgium.
At 32 weeks of gestation, delivery of a female fetus was induced because of severe malformations seen on ultrasonogram: congenital diaphragmatic hernia and cerebellar hypoplasia. The diagnosis of Coffin-Siris syndrome was based on the physical examination: coarse face with low-set ears, low nuchal hairline, scalp hypotrichosis and hypoplasia of the nails of fingers and toes with absence of the right fifth fingernail. Autopsy confirmed the prenatally diagnosed major associated abnormalities: hypoplasia of the cerebellum and congenital diaphragmatic hernia. Various clinical entities are included in the differential diagnosis.