Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia

摘要

Congenital diaphragmatic hernia (CDH) is a congenital malformation that has a reported incidence ranging from 2.4 to 4.1 in 10,000 births. Despite advances in neonatal care, a mortality rate of 33% is still reported with isolated CDH, predominantly due to hypoxic respiratory failure secondary to pulmonary hypoplasia. Fryns syndrome is the most common autosomal recessive syndrome associated with CDH, reported in up to 10% of patients with CDH, comprising CDH, pulmonary hypoplasia, craniofacial abnormalities, distal limb hypoplasia and internal malformations.