Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia

Abstract

A rare instance of double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia is presented. Despite midface hypoplasia, thorax deformity and lung hypoplasia, the child survived the neonatal period. Severe pulmonary hypertension, already present at birth, led to right heart failure and death at the age of 1 year.