Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder

Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with c...

Descripción completa

Detalles Bibliográficos
Autores principales: Panigrahi, Rajat G., Panigrahi, Antarmayee, Vijayakumar, Poornima, Choudhury, Priyadarshini, Bhuyan, Sanat K., Bhuyan, Ruchi, Maragathavalli, G., Pati, Abhishek Ranjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830809/
https://www.ncbi.nlm.nih.gov/pubmed/24288630
http://dx.doi.org/10.1155/2013/631378
_version_ 1782291526711246848
author Panigrahi, Rajat G.
Panigrahi, Antarmayee
Vijayakumar, Poornima
Choudhury, Priyadarshini
Bhuyan, Sanat K.
Bhuyan, Ruchi
Maragathavalli, G.
Pati, Abhishek Ranjan
author_facet Panigrahi, Rajat G.
Panigrahi, Antarmayee
Vijayakumar, Poornima
Choudhury, Priyadarshini
Bhuyan, Sanat K.
Bhuyan, Ruchi
Maragathavalli, G.
Pati, Abhishek Ranjan
author_sort Panigrahi, Rajat G.
collection PubMed
description Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest.
format Online
Article
Text
id pubmed-3830809
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-38308092013-11-28 Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder Panigrahi, Rajat G. Panigrahi, Antarmayee Vijayakumar, Poornima Choudhury, Priyadarshini Bhuyan, Sanat K. Bhuyan, Ruchi Maragathavalli, G. Pati, Abhishek Ranjan Case Rep Dent Case Report Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description of differential diagnosis and dental consideration. This is the first case report of HGPS which showed pectus carinatum structure of chest. Hindawi Publishing Corporation 2013 2013-10-30 /pmc/articles/PMC3830809/ /pubmed/24288630 http://dx.doi.org/10.1155/2013/631378 Text en Copyright © 2013 Rajat G. Panigrahi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Panigrahi, Rajat G.
Panigrahi, Antarmayee
Vijayakumar, Poornima
Choudhury, Priyadarshini
Bhuyan, Sanat K.
Bhuyan, Ruchi
Maragathavalli, G.
Pati, Abhishek Ranjan
Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
title Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
title_full Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
title_fullStr Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
title_full_unstemmed Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
title_short Hutchinson-Gilford Progeria Syndrome: A Rare Genetic Disorder
title_sort hutchinson-gilford progeria syndrome: a rare genetic disorder
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3830809/
https://www.ncbi.nlm.nih.gov/pubmed/24288630
http://dx.doi.org/10.1155/2013/631378
work_keys_str_mv AT panigrahirajatg hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT panigrahiantarmayee hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT vijayakumarpoornima hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT choudhurypriyadarshini hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT bhuyansanatk hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT bhuyanruchi hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT maragathavallig hutchinsongilfordprogeriasyndromeararegeneticdisorder
AT patiabhishekranjan hutchinsongilfordprogeriasyndromeararegeneticdisorder

Ejemplares similares