MSX1 Mutation in Witkop Syndrome; A Case Report

The witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. this is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. a homozygous mutation was identified in 3’-utr of msx1 gene in the proband. the parents of the patient had no dental and nail anomalies.