Short rib-thoracic dysplasia syndrome (typeIII) caused by compound heterozygous mutation in DYNC2H1: a case report

Abstract

We reported one fetus who was identified with significantly short humeri and femora, bulging abdomen and narrowed chest at 22+2 weeks' gestation, which was consistent with clinical findings at birth. Genetic analysis revealed that this was a case of short-rib thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1. We summarized the features of prenatal ultrasound imaging and results of postpartum genetic analysis of this case to provide information for prenatal ultrasound diagnosis and postpartum consultation. Key words: Short Rib-Polydactyly Syndrome; Cytoplasmic dyneins; Mutation; Ultrasonography, prenatal