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本文引用的文献

1
Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.克-特综合征:需要仔细的临床分类。
J Ultrasound Med. 2016 Sep;35(9):2057-65. doi: 10.7863/ultra.15.08007. Epub 2016 Aug 4.
2
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero.宫内产前诊断Klippel-Trenaunay-Weber综合征合并Kasabach-Merritt综合征。
J Med Ultrason (2001). 2015 Jan;42(1):109-12. doi: 10.1007/s10396-014-0557-5. Epub 2014 Jul 3.
3
Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations.过度生长综合征的鉴别诊断:最重要的临床和放射学疾病表现。
Radiol Res Pract. 2014;2014:947451. doi: 10.1155/2014/947451. Epub 2014 Jun 9.
4
Sonographic identification of klippel-trenaunay-weber syndrome.Klippel-Trenaunay-Weber综合征的超声诊断
Case Rep Obstet Gynecol. 2013;2013:595476. doi: 10.1155/2013/595476. Epub 2013 Dec 3.
5
Diverse manifestations and management options in Klippel-Trenaunay syndrome: a single centre 10-year experience.克-特综合征的多样表现及治疗选择:单中心10年经验
J Plast Surg Hand Surg. 2013 Sep;47(4):303-7. doi: 10.3109/2000656X.2013.766201. Epub 2013 May 28.
6
Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.下肢广泛血管畸形的诊断和治疗:第一部分。临床诊断。
J Am Acad Dermatol. 2011 Nov;65(5):893-906; quiz 907-8. doi: 10.1016/j.jaad.2010.12.047.
7
Sonographic identification of lower limb venous hypoplasia in the prenatal diagnosis of Klippel-Trénaunay syndrome.产前诊断克莱佩尔-特雷纳综合征中下肢静脉发育不良的超声学特征。
Ultrasound Obstet Gynecol. 2009 Dec;34(6):727-9. doi: 10.1002/uog.7461.
8
Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.克-特综合征:诊断标准及病因假说
Ann Plast Surg. 2008 Feb;60(2):217-23. doi: 10.1097/SAP.0b013e318062abc1.
9
Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome.克-特-韦综合征的产前超声检查结果。
J Clin Ultrasound. 2007 Sep;35(7):409-12. doi: 10.1002/jcu.20323.
10
Klippel-Trenaunay-Weber syndrome involving fetal thigh: prenatal presentations and outcomes.累及胎儿大腿的克-特-韦综合征:产前表现及结局
Prenat Diagn. 2006 Sep;26(9):825-30. doi: 10.1002/pd.1512.

克-特综合征的产前诊断:4例病例系列及文献复习

Prenatal diagnosis of Klippel-Trenaunay syndrome: Series of four cases and review of the literature.

作者信息

Ivanitskaya Olga, Andreeva Elena, Odegova Natalia

机构信息

Medical Genetic Department, Moscow Regional Research Institute of Obstetrics and Gynecology, Moscow, Russian Federation.

出版信息

Ultrasound. 2020 May;28(2):91-102. doi: 10.1177/1742271X19880327. Epub 2019 Oct 17.

DOI:10.1177/1742271X19880327
PMID:32528545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7254946/
Abstract

Klippel-Trenaunay syndrome is a rare disease with a classic triad of port wine stains, varicose veins, and bony and soft tissue hypertrophy of an extremity. The quality of life in these patients is significantly affected, making the prenatal diagnosis of Klippel-Trenaunay syndrome important. We present four prenatally diagnosed cases of this anomaly with a unique case of ectrodactyly of the hand in foetus with Klippel-Trenaunay syndrome. Such a combination has not been previously reported prenatally. A review of the literature for similar cases is also presented.

摘要

克-特综合征是一种罕见疾病,具有典型的三联征,即葡萄酒色斑、静脉曲张以及肢体的骨和软组织肥大。这些患者的生活质量受到显著影响,因此克-特综合征的产前诊断很重要。我们报告了4例产前诊断为此种异常的病例,其中1例为患有克-特综合征胎儿的手部缺指畸形,这种组合在产前尚未见报道。本文还对类似病例的文献进行了综述。