Warkany Syndrome: A Rare Case Report

Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8...

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Detalles Bibliográficos
Autores principales: Agrawal, Amit, Agrawal, Rashmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350276/
https://www.ncbi.nlm.nih.gov/pubmed/22606514
http://dx.doi.org/10.1155/2011/437101
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author Agrawal, Amit
Agrawal, Rashmi
author_facet Agrawal, Amit
Agrawal, Rashmi
author_sort Agrawal, Amit
collection PubMed
description Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.
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spelling pubmed-33502762012-05-17 Warkany Syndrome: A Rare Case Report Agrawal, Amit Agrawal, Rashmi Case Rep Pediatr Case Report Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development. Hindawi Publishing Corporation 2011 2011-10-18 /pmc/articles/PMC3350276/ /pubmed/22606514 http://dx.doi.org/10.1155/2011/437101 Text en Copyright © 2011 A. Agrawal and R. Agrawal. 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
Agrawal, Amit
Agrawal, Rashmi
Warkany Syndrome: A Rare Case Report
title Warkany Syndrome: A Rare Case Report
title_full Warkany Syndrome: A Rare Case Report
title_fullStr Warkany Syndrome: A Rare Case Report
title_full_unstemmed Warkany Syndrome: A Rare Case Report
title_short Warkany Syndrome: A Rare Case Report
title_sort warkany syndrome: a rare case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350276/
https://www.ncbi.nlm.nih.gov/pubmed/22606514
http://dx.doi.org/10.1155/2011/437101
work_keys_str_mv AT agrawalamit warkanysyndromeararecasereport
AT agrawalrashmi warkanysyndromeararecasereport

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