Iranian Journal of Medical Sciences

Document Type: Case Report(s)

Authors

1 Department of Genetics, School of Medicine, Shiraz University of Medical Sciences

2 Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran

3 Department of Dermatology, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran

Abstract

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.