Ellis-Van Creveld综合征和Dandy-Walker畸形:一种罕见的关联。

4区医学 Q2 Medicine Pediatric endocrinology reviews : PER Pub Date : 2018-12-01 DOI:10.17458/per.vol16.2018.ellisvananddandywaler

Khadija Boujtat, Siham Rouf, Imane Boutahar, Imane Skiker, Mariam Tajir, Hanane Latrech

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引用次数: 1

摘要

Ellis-Van Creveld (EvC)综合征是一种罕见的常染色体隐性软骨外胚层发育不良，包括软骨发育不良、轴后多指畸形、外胚层发育不良和60%的先天性心脏病。肺、肾、胃肠、血液学和中枢神经系统也可能出现其他症状。我们报告一例11岁的摩洛哥男孩EVC综合征和Dandy-Walker畸形。据我们所知，文献中已有3例患者报道过这种关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association.

Ellis-Van Creveld (EvC) syndrome is a rare autosomal recessive chondroectodermal dysplasia including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease in 60% of patients. Additional findings may be observed affecting the pulmonary, renal, gastrointestinal, hematologic, and central nervous systems. We report a case of an 11-year-old Moroccan boy with EVC syndrome and Dandy-Walker malformation. To our knowledge, this association has been previously reported in 3 patients in the literature.

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Pediatric endocrinology reviews : PER Medicine-Endocrinology, Diabetes and Metabolism

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期刊介绍： PEDIATRIC ENDOCRINOLOGY REVIEWS (PER) publishes scholarly review articles in all areas of clinical and experimental Endocrinology, Diabetes, Nutrition and Metabolism. PER is intended for practicing pediatricians, pediatric endocrinologists, pediatric diabetologists, pediatric gastroenterologists, neonatologists, pediatric gynecologists, nutritionists, sport physicians and pediatricians-in-training. PER will also publish topics on specific subjects or as proceedings of scientific meetings in the above fields of interest. All articles, whether invited or direct contributions, are peer-reviewed. PER publishes correspondence, book reviews, a meeting calendar and meeting reports.

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