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

Article type: Research Article

Authors: Masoodi, Zulqarnain | Bariar, Lalit Mohan | Haq, Ansarul

Affiliations: Department of Plastic Surgery, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India

Note: [] Correspondence: Dr. Zulqarnain Masoodi, Department of Plastic Surgery, JNMC, AMU, Aligarh, 202002, India. Tel.: +91 9760473180; Fax: +91 5712720672; E-mail: [email protected]

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

DOI: 10.3233/JPN-130630

Journal: Journal of Pediatric Neurology, vol. 11, no. 4, pp. 251-255, 2013