Abstract

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare autosomal recessive skeletal dysplasia with multiorgan involvement. Clinically, Jeune syndrome is characterised by a bell-shaped, narrow chest and variable limb shortness. Most of the children suffering from this syndrome present with severe respiratory failure during the early infancy period. Here we report a neonate with serious postnatal respiratory insufficiency who was diagnosed with Jeune syndrome. Since intermarriage is frequent in Turkey, when a newborn with respiratory failure has a bell-shaped, narrow chest and variable limb shortness, Jeune syndrome should be considered.