Document Type : Case Report(s)

Authors

• Majid Fardaei ¹
• Faezeh Ghaderi ²
• Somaye Hekmat ²
• Reza Ghaderi ³

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.

Keywords

• Witkop syndrome
• MSX1
• Nail dysplasia