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

被引：2

作者：

Boujtat, Khadija ^{[1
]}

Rouf, Siham ^{[1
]}

Boutahar, Imane ^{[2
]}

Skiker, Imane ^{[2
]}

Tajir, Mariam ^{[3
]}

Latrech, Hanane ^{[1
]}

机构：

[1] Mohamed First Univ, Sch Med, Mohammed VI Hosp, Dept Endocrinol, Oujda, Morocco

[2] Mohamed First Univ, Sch Med, Mohammed VI Hosp, Dept Radiol, Oujda, Morocco

[3] Mohamed First Univ, Sch Med, Mohammed VI Hosp, Lab Med Genet, Oujda, Morocco

来源：

PEDIATRIC ENDOCRINOLOGY REVIEWS PER | 2018年 / 16卷 / 02期

关键词：

Ellis-Van Creveld syndrome; Chondroectodermal dysplasia; Dandy-Walker malformation; CHONDROECTODERMAL DYSPLASIA; MUTATIONS; VANCREVELD; GENE;

D O I：

10.17458/per.vol16.2018.ellisvananddandywaler

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：275 / 283

页数：9

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