[A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"].

Abstract

Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature.