Jeune syndrome - asphyxiating thoracic dystrophy and its prenatal diagnosis: a rare case report

Abstract

Jeune syndrome is an extremely rare condition representing Asphyxiating Thoracic Dystrophy (ATD) and it is potentially lethal congenital dwarfism with estimated incidence of 1 per 100000-130000 live births. 1 A term male neonate, born by vaginal delivery to a primigravida with polyhydramnios, presented to our NICU with birth asphyxia and severe respiratory distress since birth along with multiple characteristic skeletal anomalies including small bell shaped thorax and short limbs leading to diagnosis of Jeune syndrome. Follow up of the mother in her second pregnancy with prenatal sonographic examination at 17 and 19 weeks revealed the same type of skeletal dystrophy in this pregnancy. Diagnosis was made on ultrasonographic findings and detected abnormalities were confirmed by X-ray following termination of her second pregnancy. This is a case of Jeune syndrome in siblings.