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

VernacularTitle:DYNC2H1基因复合杂合突变致短肋-胸廓发育不良综合征3型一例
Author: Enbo SHA ¹ ; Jiusheng JIANG ; Yu LIU ; Limin WANG ; Chunli JING
Author Information

1. 116033,大连市妇幼保健院暨大连医科大学附属妇产医院超声科
Keywords: Short Rib-Polydactyly Syndrome; Cytoplasmic dyneins; Mutation; Ultrasonography,prenatal
From: Chinese Journal of Perinatal Medicine 2018;21(7):499-501
CountryChina
Language:Chinese
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.