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妊娠性布鲁克综合征。

Bruck syndrome in pregnancy.

机构信息

Obstetrics and Gynaecology, St George's University Hospitals NHS Foundation Trust, London, UK.

Maternal Medicine, St George's University Hospitals NHS Foundation Trust, London, UK.

出版信息

BMJ Case Rep. 2024 Sep 10;17(9):e257696. doi: 10.1136/bcr-2023-257696.

Abstract

Bruck syndrome is a rare, autosomal-recessive condition associated with features of both arthrogryposis and osteogenesis imperfecta. It is characterised by congenital large joint contractures with pterygia and bone fragility, leading to fractures and deformities, along with a short stature caused by progressive skeletal deformities. There are fewer than 50 described cases of Bruck syndrome in the literature, with no reported cases in pregnancy. We describe a case of a successful pregnancy in a woman with Bruck syndrome.In pregnant women with Bruck syndrome, we recommend a multidisciplinary approach including input from obstetric and fetal medicine specialists, midwives, anaesthetists, geneticists, occupational therapists and physiotherapists.

摘要

布鲁克综合征是一种罕见的常染色体隐性疾病,同时具有关节挛缩症和成骨不全症的特征。其特征为先天性大关节挛缩伴有翼状胬肉和骨骼脆弱,导致骨折和畸形,以及由进行性骨骼畸形引起的身材矮小。文献中描述的布鲁克综合征病例少于 50 例,妊娠期无报告病例。我们描述了一例布鲁克综合征女性成功妊娠的病例。对于患有布鲁克综合征的孕妇,我们建议采用多学科方法,包括产科和胎儿医学专家、助产士、麻醉师、遗传学家、职业治疗师和物理治疗师的意见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c5a/11590438/421b9b757b06/bcr-17-9-g001.jpg

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