A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report

INTRODUCTION: A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered. CASE PRESENTATION: The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations in the 13 exons and flanking intronic regio...

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Autores principales: Al Kaissi, Ali, Skoumal, Martin, Roetzer, Katharina, Grill, Franz, Klaushofer, Klaus
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276222/
https://www.ncbi.nlm.nih.gov/pubmed/18284671
http://dx.doi.org/10.1186/1752-1947-2-51
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author Al Kaissi, Ali
Skoumal, Martin
Roetzer, Katharina
Grill, Franz
Klaushofer, Klaus
author_facet Al Kaissi, Ali
Skoumal, Martin
Roetzer, Katharina
Grill, Franz
Klaushofer, Klaus
author_sort Al Kaissi, Ali
collection PubMed
description INTRODUCTION: A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered. CASE PRESENTATION: The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations in the 13 exons and flanking intronic regions of the LEMD3-gene have not been detected. His phenotypic features were consistent but not completely diagnostic for tricho-dento-osseous syndrome (TDO). We report what might be a novel syndromic association. CONCLUSION: Melorheostosis has not previously been reported to be a part of TDO and an extensive review of the literature suggests that the constellation of hair, tooth and bone abnormalities found in our patient either represents an unusual variant of tricho-dento-osseous syndrome or a new syndrome.
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spelling pubmed-22762222008-03-28 A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report Al Kaissi, Ali Skoumal, Martin Roetzer, Katharina Grill, Franz Klaushofer, Klaus J Med Case Reports Case Report INTRODUCTION: A case of melorheostosis in association with tricho-dento-osseous (TDO) syndrome has been encountered. CASE PRESENTATION: The clinical and the radiographic manifestations of melorheostosis have been encountered in a 41-year-old man. Mutations in the 13 exons and flanking intronic regions of the LEMD3-gene have not been detected. His phenotypic features were consistent but not completely diagnostic for tricho-dento-osseous syndrome (TDO). We report what might be a novel syndromic association. CONCLUSION: Melorheostosis has not previously been reported to be a part of TDO and an extensive review of the literature suggests that the constellation of hair, tooth and bone abnormalities found in our patient either represents an unusual variant of tricho-dento-osseous syndrome or a new syndrome. BioMed Central 2008-02-19 /pmc/articles/PMC2276222/ /pubmed/18284671 http://dx.doi.org/10.1186/1752-1947-2-51 Text en Copyright © 2008 Al Kaissi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Al Kaissi, Ali
Skoumal, Martin
Roetzer, Katharina
Grill, Franz
Klaushofer, Klaus
A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
title A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
title_full A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
title_fullStr A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
title_full_unstemmed A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
title_short A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
title_sort patient with melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2276222/
https://www.ncbi.nlm.nih.gov/pubmed/18284671
http://dx.doi.org/10.1186/1752-1947-2-51
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