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Journal of Medical Case Reports

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Open Access 01-12-2008 | Case report

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

Authors: Ali Al Kaissi, Martin Skoumal, Katharina Roetzer, Franz Grill, Klaus Klaushofer

Published in: Journal of Medical Case Reports | Issue 1/2008

Abstract

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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Title: A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
Authors: Ali Al Kaissi
Martin Skoumal
Katharina Roetzer
Franz Grill
Klaus Klaushofer
Publication date: 01-12-2008
Publisher: BioMed Central
Published in: Journal of Medical Case Reports / Issue 1/2008
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/1752-1947-2-51

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

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

Abstract

Introduction

Case presentation

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Introduction

Case presentation

Conclusion

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