PDF(Pubmed)
Abstract：
Lethal skeletal dysplasias (SDs) are a heterogeneous group of rare but important genetic disorders characterised by abnormal growth and development of bone and cartilage. The phenotypic variation of SD highlights the complex aetiology for this group of disorders. Short rib polydactyly syndrome (SRPS) types I-IV are a group of rare congenital autosomal recessive types of SD.We report a case of a non-consanguineous couple whose two successive pregnancies were diagnosed with multiple congenital anomalies in fetuses suggestive of lethal SD (likely SRPS type IV) at 24 and 19 weeks period of gestation, respectively. Pregnancy was terminated, and the whole exome sequencing of the abortus for genetic analysis in the second pregnancy confirmed an autosomal recessive type of short rib thoracic dysplasia-4 (SRTD-4) also called SRPS in homozygous condition. Our case is unique as it was also associated with cystic hygroma which is a rare association with SRPS/SRTD-4.
摘要：
致命骨骼发育不良（SD）是一组罕见但重要的遗传性疾病，其特征是骨骼和软骨的异常生长和发育。SD的表型变异突出了该组疾病的复杂病因。短肋骨多指综合征（SRPS）I-IV型是一组罕见的先天性常染色体隐性遗传类型的SD。我们报告了一例非近亲夫妇，其两次连续怀孕均在妊娠24周和19周时被诊断为胎儿患有多种先天性异常，提示致命的SD（可能是SRPSIV型），分别。怀孕终止了,第二次妊娠流产的整个外显子组测序用于遗传分析，证实了一种常染色体隐性遗传类型的短肋骨胸部发育不良-4（SRTD-4），也称为纯合子状态下的SRPS。我们的病例是独特的，因为它也与囊性水瘤有关，囊性水瘤与SRPS/SRTD-4罕见相关。
