[致死性成骨不全：产前诊断]

[Lethal osteogenesis imperfecta: antenatal diagnosis].

作者信息

El Mhabrech Houda, Zrig Ahmed, Mazhoud Ines, Njim Leila, Hajjeji Aouatef, Faleh Raja, Hafsa Ch

机构信息

Service d'Imagerie Médicale B, Centre de Maternité et de Néonatologie de Monastir, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.

Service d'Imagerie Médicale A, Université de Monastir, CHU Fattouma Bourguiba Monastir, Tunisie.

出版信息

Pan Afr Med J. 2016 Oct 17;25:88. doi: 10.11604/pamj.2016.25.88.5871. eCollection 2016.

DOI:10.11604/pamj.2016.25.88.5871

PMID:28292051

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5324159/

Abstract

Osteogenesis imperfecta (OI) is a heterogeneous group of diseases affecting type I collagen and characterized by bone fragility. Lethal forms are rare and are characterized by micromelia associated with limb deformities. We report two cases of prenatally diagnosed lethal OI. Patients underwent ultrasound examination at 17 and 25 weeks of amenorrhoea, supplemented with fetal skeletal CT scanning in one case. Therapeutic abortion was recommended in both cases.

摘要

成骨不全症（OI）是一组影响I型胶原蛋白且以骨脆性为特征的异质性疾病。致死型较为罕见，其特征为伴有肢体畸形的短肢畸形。我们报告两例产前诊断为致死型OI的病例。两名患者分别在停经17周和25周时接受了超声检查，其中一例还进行了胎儿骨骼CT扫描。两例均建议进行治疗性流产。