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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2023
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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. |
format | Online Article Text |
id | pubmed-10413881 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Sciendo |
record_format | MEDLINE/PubMed |
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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