Aplasia of the Diaphragm

Abstract

According to Butler and Claireaux,1 approximately 8% of congenital malformations causing death during the first few days of life are secondary to diaphragmatic defects. The reported incidence is 1 out of every 2,200 births.2 To our knowledge, diaphragmatic defects in siblings, specifically aplasia of the diaphragm, have not been reported in the American literature although there have been six reported families in the European literature.3-8 Passarge, et al.7 have recently reported a family and reviewed the literature. We would like to report another family with aplasia of the diaphragm and stress the importance of proper genetic counseling. CASE HISTORIES The first infant was the product of the first pregnancy of a 25-year-old mother and a 27-year-old father.