Ontology highlight
ABSTRACT:
SUBMITTER: Ghaderi F
PROVIDER: S-EPMC3771223 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Ghaderi Faezeh F Hekmat Somaye S Ghaderi Reza R Fardaei Majid M
Iranian journal of medical sciences 20130601 2 Suppl
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. ...[more]