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

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

doi:10.17458/per.vol16.2018.ellisvananddandywaler

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

Pediatr Endocrinol Rev. 2018 Dec;16(2):275-283. doi: 10.17458/per.vol16.2018.ellisvananddandywaler.

Authors

Khadija Boujtat¹, Siham Rouf¹, Imane Boutahar², Imane Skiker², Mariam Tajir³, Hanane Latrech⁴

Affiliations

¹ Department of Endocrinology, Mohammed VI Hospital, Medical School, Mohamed the First University, Oujda, Morocco.
² Department of Radiology, Mohammed VI Hospital, Medical School, Mohamed the First University, Oujda, Morocco.
³ Laboratory of Medical Genetics, Mohammed VI Hospital, Medical School, Mohamed the First University, Oujda, Morocco.
⁴ Medical School, Mohammed VI Hospital 4806, 60049 Oujda, Morocco, E-mail: hlatrech@hotmail.fr.

PMID: 30556660
DOI: 10.17458/per.vol16.2018.ellisvananddandywaler

Abstract

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.

Keywords: Chondroectodermal dysplasia; Dandy-Walker malformation; Ellis-Van Creveld syndrome.

Publication types

Case Reports

MeSH terms

Central Nervous System
Child
Dandy-Walker Syndrome*
Ellis-Van Creveld Syndrome*
Humans
Kidney
Male
Polydactyly*