期刊
GENES
卷 14, 期 11, 页码 -出版社
MDPI
DOI: 10.3390/genes14112062
关键词
bone fractures; brittle bone disease; bisphosphonate; COL1A1 variant; fetal fractures; osteogenesis imperfecta; prenatal ultrasound screening; skeletal dysplasia
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic connective tissue disorder that can be suspected before birth through prenatal ultrasound screening. This article presents a case of OI suspected at the 26th week of gestation, one year outcomes of the patient, and compares the case to other prenatally or soon-after-birth suspected and/or diagnosed OI cases in the literature.
Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient's outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using COL1A1 gene variant detection via exome sequencing; the COL1A1 gene variant causes OI types I-IV. The familial history was negative for both pregnancy-related risk factors and genetic diseases. At one year old, the patient's condition remains severe with bisphosphonate therapy.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据