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MSX1 mutation in witkop syndrome; a case report.

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.

SUBMITTER: Ghaderi F

PROVIDER: S-EPMC3771223 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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MSX1 mutation in witkop syndrome; a case report.

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]

PMID: 24031111

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