Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1782411501809696768 |
---|---|
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). |
format | Online Article Text |
id | pubmed-4723365 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT evansscott highgradeosteosarcomaonabackgroundoftrichorhinophalangealsyndromeafamilyperspective AT brewerpaul highgradeosteosarcomaonabackgroundoftrichorhinophalangealsyndromeafamilyperspective AT vaiyapurisumathi highgradeosteosarcomaonabackgroundoftrichorhinophalangealsyndromeafamilyperspective AT grimerrobert highgradeosteosarcomaonabackgroundoftrichorhinophalangealsyndromeafamilyperspective |