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Journal of Pediatric Neurology 2013; 11(04): 251-255
DOI: 10.3233/JPN-130630
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Ellis-van Creveld syndrome with syndactyly, hydrocephalus and cleft palate: A normal variant of Ellis-van Creveld or a new syndrome?

Zulqarnain Masoodi
a   Department of Plastic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India
,
Lalit Mohan Bariar
a   Department of Plastic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India
,
Ansarul Haq
a   Department of Plastic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India
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Publication History

27 May 2013

06 August 2013

Publication Date:
30 July 2015 (online)

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Abstract

Ellis-van Creveld (EVC) syndrome is an uncommon disease which classically presents as a combination of heart anomalies, dwarfism, polydactyly and ectodermal dysplasia. We report an atypical case of EVC syndrome, which involves the nervous system in the form of hydrocephalus besides having an atypical inheritance pattern. Whether it is a conventional case of EVC syndrome or a new syndrome needs to be ascertained as this may have important diagnostic and management related implications for the patient.

Keywords

Ellis-van Creveld - nervous system - atypical