Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

摘要

INTRODUCTION: 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. CASE PRESENTATION: We present two siblings with lethal CDH born within a 30 month period. The clinical course in these two infants is described and the possible mode of inheritance for CDH in this family is reviewed. CONCLUSION: In spite of lacking many advanced chromosomal evaluations in our institute we recommended for further investigation into isolated and particularly familial cases may lead to the identification of genetic abnormalities detectable with FISH assay, locus-specific DNA probes, or other new techniques. There remains an ongoing need for careful clinical review and blood banking of cases of CDH to allow better insight into the genetic causes of severe fetal anomalies such as CDH.