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 prim...

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Autores principales: Ghaderi, Faezeh, Hekmat, Somaye, Ghaderi, Reza, Fardaei, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shiraz University of Medical Sciences 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771223/
https://www.ncbi.nlm.nih.gov/pubmed/24031111
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author Ghaderi, Faezeh
Hekmat, Somaye
Ghaderi, Reza
Fardaei, Majid
author_facet Ghaderi, Faezeh
Hekmat, Somaye
Ghaderi, Reza
Fardaei, Majid
author_sort Ghaderi, Faezeh
collection PubMed
description 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.
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spelling pubmed-37712232013-09-12 MSX1 Mutation in Witkop Syndrome; A Case Report Ghaderi, Faezeh Hekmat, Somaye Ghaderi, Reza Fardaei, Majid Iran J Med Sci 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. Shiraz University of Medical Sciences 2013-06 /pmc/articles/PMC3771223/ /pubmed/24031111 Text en © 2013: Iranian Journal of Medical Sciences This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ghaderi, Faezeh
Hekmat, Somaye
Ghaderi, Reza
Fardaei, Majid
MSX1 Mutation in Witkop Syndrome; A Case Report
title MSX1 Mutation in Witkop Syndrome; A Case Report
title_full MSX1 Mutation in Witkop Syndrome; A Case Report
title_fullStr MSX1 Mutation in Witkop Syndrome; A Case Report
title_full_unstemmed MSX1 Mutation in Witkop Syndrome; A Case Report
title_short MSX1 Mutation in Witkop Syndrome; A Case Report
title_sort msx1 mutation in witkop syndrome; a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3771223/
https://www.ncbi.nlm.nih.gov/pubmed/24031111
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AT fardaeimajid msx1mutationinwitkopsyndromeacasereport

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