Yenidoğan döneminde tanı alan Asfiktik Torasik Distrofi (Jeune Sendromu) vakası

Abstract

Jeune syndrome is a skeletal chondrodystrophy, which is rarely seen in autosomal recessive inheritance. Patients usually die from respiratory failure in early infancy. The disease includes a broad clinical picture, including renal dysplasia, hepatic, and pancreatic fibrosis. Here we present a case with Jeune syndrome diagnosed by detecting thoracic anterior, posterior, and transverse diameter narrowing, flattening in the acetabular ceiling. We aimed to emphasize the necessity of early diagnosis and follow-up, as they carry the risk of sudden death.