Ellis-Van Creveld Syndrome is rare Aotossomal recessive condition characterized by short limb dwarfism, polydactyly, abnormal development of finger nails and congenital cardiac defects in 50% of the patients.The orofacial manifestation includes multiple gingivolabial fraenula, dental anomalies, hypodontia and malocclusion.The syndrome can be caused by mutation in EVC gene or EVC2 gene present in chromosome 4p16.
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Shah et al. (2024) studied this question.
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