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.
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。
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