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Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager

Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes t...

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Detalles Bibliográficos
Autores principales: Popescu, D.E., Marian, D., Zeleniuc, M., Samoila, Ch., Belengeanu, V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413881/
https://www.ncbi.nlm.nih.gov/pubmed/37576793
http://dx.doi.org/10.2478/bjmg-2023-0006
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author Popescu, D.E.
Marian, D.
Zeleniuc, M.
Samoila, Ch.
Belengeanu, V.
author_facet Popescu, D.E.
Marian, D.
Zeleniuc, M.
Samoila, Ch.
Belengeanu, V.
author_sort Popescu, D.E.
collection PubMed
description Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.
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spelling pubmed-104138812023-08-11 Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager Popescu, D.E. Marian, D. Zeleniuc, M. Samoila, Ch. Belengeanu, V. Balkan J Med Genet Case Report Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16. Sciendo 2023-07-31 /pmc/articles/PMC10413881/ /pubmed/37576793 http://dx.doi.org/10.2478/bjmg-2023-0006 Text en © 2023 D.E. Popescu et al., published by Sciendo https://creativecommons.org/licenses/by-nc-nd/3.0/This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Case Report
Popescu, D.E.
Marian, D.
Zeleniuc, M.
Samoila, Ch.
Belengeanu, V.
Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
title Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
title_full Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
title_fullStr Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
title_full_unstemmed Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
title_short Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
title_sort features of the wolf-hirschhorn syndrome (whs) from infant to young teenager
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413881/
https://www.ncbi.nlm.nih.gov/pubmed/37576793
http://dx.doi.org/10.2478/bjmg-2023-0006
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