Jeune syndrome: Asphyxiating thoracic dystrophy and its genetic diagnosis – A rare case report

Abstract

Jeune syndrome, also known as asphyxiating thoracic dystrophy, is a rare multisystem potentially lethal skeletal dysplasia. It has an estimated incidence of 1/100,000–130,000 live births. A term outborn female neonate born by vaginal delivery to a primigravida mother, presented to our neonatal intensive care unit with severe respiratory distress since birth. The baby was noticed to have multiple characteristic skeletal anomalies including small bell-shaped thorax and short limbs leading to the clinical diagnosis of Jeune syndrome. Whole genome sequencing was done which confirmed the diagnosis. A correct clinical and genetic diagnosis in index cases of Jeune syndrome should be established to facilitate prenatal diagnosis and genetic counseling.