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High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective

Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder with typical craniofacial and skeletal abnormalities. Three main subtypes have been described. All variations of the condition affect the hair (tricho), nose (rhino) and fingers (phalangeal). The diagnosis is usually made through clini...

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Detalles Bibliográficos
Autores principales: Evans, Scott, Brewer, Paul, Vaiyapuri, Sumathi, Grimer, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723365/
https://www.ncbi.nlm.nih.gov/pubmed/26909277
http://dx.doi.org/10.1016/j.jbo.2013.04.002
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author Evans, Scott
Brewer, Paul
Vaiyapuri, Sumathi
Grimer, Robert
author_facet Evans, Scott
Brewer, Paul
Vaiyapuri, Sumathi
Grimer, Robert
author_sort Evans, Scott
collection PubMed
description Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder with typical craniofacial and skeletal abnormalities. Three main subtypes have been described. All variations of the condition affect the hair (tricho), nose (rhino) and fingers (phalangeal). The diagnosis is usually made through clinical examination augmented by hand radiographs that reveal characteristic cone-shaped epiphyses Sporadic case reports detailing TRPS have been described in the literature. We describe the first report of high-grade osteosarcoma presenting in two members of the same family with trichorhinophalangeal syndrome (TRPS).
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spelling pubmed-47233652016-02-23 High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective Evans, Scott Brewer, Paul Vaiyapuri, Sumathi Grimer, Robert J Bone Oncol Case Report Trichorhinophalangeal syndrome (TRPS) is a rare genetic disorder with typical craniofacial and skeletal abnormalities. Three main subtypes have been described. All variations of the condition affect the hair (tricho), nose (rhino) and fingers (phalangeal). The diagnosis is usually made through clinical examination augmented by hand radiographs that reveal characteristic cone-shaped epiphyses Sporadic case reports detailing TRPS have been described in the literature. We describe the first report of high-grade osteosarcoma presenting in two members of the same family with trichorhinophalangeal syndrome (TRPS). Elsevier 2013-04-22 /pmc/articles/PMC4723365/ /pubmed/26909277 http://dx.doi.org/10.1016/j.jbo.2013.04.002 Text en © 2013 Elsevier GmbH. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Evans, Scott
Brewer, Paul
Vaiyapuri, Sumathi
Grimer, Robert
High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
title High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
title_full High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
title_fullStr High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
title_full_unstemmed High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
title_short High grade osteosarcoma on a background of trichorhinophalangeal syndrome: A family perspective
title_sort high grade osteosarcoma on a background of trichorhinophalangeal syndrome: a family perspective
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723365/
https://www.ncbi.nlm.nih.gov/pubmed/26909277
http://dx.doi.org/10.1016/j.jbo.2013.04.002
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