Prenatal case of detection of the asphyxiating thoracic dystrophy (Jeune syndrome)

Abstract

Short-rib thoracic dysplasia (SRTD) is an autosomal recessive disorder characterized by a constricted thoracic cage, short-ribs, shortened tubular bones, polydactyly is variably present. The visceral malformation can include anomalies brain, heart, kidneys, liver, pancreas. We present a case report of prenatally diagnosed Short-rib thoracic dysplasia (SRTD) syndrome.