Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series

Purpose: The objective of this case series was to determine the oral, dental and craniofacial features of patients with EvC syndrome. Material and methods: Eight patients with EvC syndrome were enrolled. A complete family history, pedigree analysis, detailed medical history were collected. Findings of clinical examination, including craniofacial and orodental manifestations, and radiological investigations were thoroughly studied. Results: All eight patients had characteristic face, hypertrophic frenulum, conical and peg-shaped teeth, hypodontia of deciduous and/or permanent teeth and also skeletal dysplasia, small chest, short stature and hypoplastic nails. Additionally dysmorphic filtrum, serrated appearance of gingiva, diastema, enamel hypoplasia, microdontia, taurodontism, single rooted permanent molar, delayed eruption and high caries rate were observed with varying degrees. Cephalometric evaluation revealed skeletal Class III growth pattern in four subjects and Class II growth pattern in one subject. Conclusion: Evaluation of craniofacial and orodental anomalies of EvC syndrome is required for accurate differential diagnosis from other congenital syndromes. (C) 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.