Congenital diaphragmatic hernia with hypoplastic lungs, heart, and additional anomalies: A case of ? Fryns syndrome

Abstract

Congenital diaphragmatic hernia (CDH) is a common congenital anomaly that frequently occurs in conjunction with other major anomalies, including chromosomal abnormalities. Fryns syndrome (FS) is a lethal syndrome that most frequently features CDH as a cardinal feature in addition to pulmonary hypoplasia, coarse facies, distal digital hypoplasia, and organ malformations. The exact genetic defect has not yet been identified, although it is regarded to follow an autosomal recessive pattern of inheritance. We describe the autopsy findings of a medically terminated 20 weeks fetus with left-sided CDH, hypoplastic left heart, lungs, horse-shoe kidney and other anomalies, confirming to the phenotypic diagnostic guidelines of FS.