A Probable 17-18 Trisomy Syndrome with Phocomelia, Exomphalos, and Agenesis of Hemidiaphragm

Abstract

Clinical and necropsy findings of an infant who died in 1958 are described. There was phocomelia of the left arm, an absence of the left hemidiaphragm, and exomphalos, in addition to typical features of the 17-18 trisomy syndrome. This combination of malformations was interpreted as an expression of a severe form of the syndrome.