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孕期的变形综合征:一例报告。

Proteus syndrome in pregnancy: A case report.

作者信息

Ranaei-Zamani Niccole, Kaler Mandeep K, Khan Rehan

机构信息

The Royal London Hospital, Barts Health NHS Trust, Whitechapel, London, UK.

出版信息

Obstet Med. 2021 Dec;14(4):253-256. doi: 10.1177/1753495X20970791. Epub 2020 Dec 28.

DOI:10.1177/1753495X20970791
PMID:34880940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8646214/
Abstract

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

摘要

变形综合征是一种罕见的多系统遗传性综合征,其特征为骨骼组织的异常过度生长。临床表现包括骨骼肌肉生长异常和皮肤病变。由于其罕见性,已发表的变形综合征病例报告数量有限。这是首例关于妊娠期变形综合征管理的病例报告。我们介绍了一名在大型教学医院首次怀孕的患有变形综合征的孕妇病例,并讨论了她在产前、产时和产后护理中面临的考虑因素和挑战。

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Proteus syndrome in pregnancy: A case report.孕期的变形综合征:一例报告。
Obstet Med. 2021 Dec;14(4):253-256. doi: 10.1177/1753495X20970791. Epub 2020 Dec 28.
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本文引用的文献

1
Successful management of Klippel-Trenaunay syndrome in a pregnant Asian woman: A case report.一名亚洲孕妇的克-特综合征成功治疗:病例报告
Medicine (Baltimore). 2020 May;99(19):e19932. doi: 10.1097/MD.0000000000019932.
2
Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.PIK3CA 相关过度生长谱和 Proteus 综合征中的血栓形成危险因素。
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):571-581. doi: 10.1002/ajmg.c.31735. Epub 2019 Sep 6.
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Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population.与厄瓜多尔高原梅斯蒂索人群乳腺癌风险相关的致癌 AKT1 基因突变分析。
Biomed Res Int. 2018 Jul 3;2018:7463832. doi: 10.1155/2018/7463832. eCollection 2018.
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Pathophysiology of Meningioma Growth in Pregnancy.妊娠期间脑膜瘤生长的病理生理学
Open Med (Wars). 2017 Jul 13;12:195-200. doi: 10.1515/med-2017-0029. eCollection 2017.
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Bronchoscopic concerns in Proteus syndrome: a case report.
Korean J Anesthesiol. 2016 Oct;69(5):523-526. doi: 10.4097/kjae.2016.69.5.523. Epub 2016 Jul 25.
6
Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.体细胞AKT1突变导致与颅骨骨质增生特征性模式共定位的脑膜瘤。
Am J Med Genet A. 2016 Oct;170(10):2605-10. doi: 10.1002/ajmg.a.37737. Epub 2016 Aug 23.
7
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.帕克斯·韦伯综合征——诊断与管理范式:一项系统综述
Phlebology. 2017 Jul;32(6):371-383. doi: 10.1177/0268355516664212. Epub 2016 Aug 9.
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Spinal meningioma becoming symptomatic in the third trimester of pregnancy.妊娠晚期出现症状的脊髓脊膜瘤。
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Proteus syndrome review: molecular, clinical, and pathologic features.变形综合征综述:分子、临床及病理特征
Clin Genet. 2014 Feb;85(2):111-9. doi: 10.1111/cge.12266. Epub 2013 Oct 23.
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Epidural anesthesia for cesarean delivery in a morbidly obese parturient with spinal meningioma.肥胖伴脊髓膜瘤产妇剖宫产的硬膜外麻醉
Ochsner J. 2012 Summer;12(2):145-8.