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Ellis-van Creveld syndrome (EVC) also called as chondroectodermal dysplasia or mesoectodermal dysplasia is a rare autosomal recessive disorder caused by mutation in EVC1 and EVC2 genes (4p16). Classical EVC syndrome constitutes a tetrad of chondrodystrophy, ectodermal dysplasia, polydactyly and cardiac defects. Presence of variable clinical findings like fusion of upper lip to the gingival margin, presence of multiple frenula, conical, peg shaped and hypoplastic teeth, neonatal teeth, congenitally missing, absent or delayed eruption of teeth, molars with wide grooves and atypical cusps play an important role in the diagnosis of this syndrome. We report a case of 6 year old boy with short stature, genu valgum, bilateral postaxial polydactyly, dysplastic nails and multiple oral findings and dental anomalies. The diagnosis was made based on clinical and radiological features. EVC syndrome may be undiagnosed due to lack of awareness and improper screening. So, proper diagnosis and management is necessary.
Rosane Cavalcante Fragoso, Brasil
Chief Scientific Officer and Head of a Research Group
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