<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p>
</abstract>

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.

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

Department of Obstetrics-Gynecology and Neonatology

“Victor Babeș” University of Medicine and Pharmacy

Faculty of Dental Medicine – “Vasile Goldiş” Western University of Arad

“Carol Davila” University of Medicine and Pharmacy

Department of Medical Genetics, Faculty of General Medicine

“Vasile Goldiş” Western University of Arad

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"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...

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

Article Category: Case Report

Pubblicato online: 31 lug 2023

Pagine: 75 - 82

DOI: https://doi.org/10.2478/bjmg-2023-0006

Parole chiave
Fluorescent in situ hybridization (FISH), Phenotype, Severe delay speech, Wolf-Hirschhorn syndrome (WHS)

© 2023 D.E. Popescu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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

Article Category: Case Report

Pubblicato online: 31 lug 2023

Pagine: 75 - 82

DOI: https://doi.org/10.2478/bjmg-2023-0006

Parole chiaveFluorescent in situ hybridization (FISH), Phenotype, Severe delay speech, Wolf-Hirschhorn syndrome (WHS)

© 2023 D.E. Popescu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
Fluorescent in situ hybridization (FISH), Phenotype, Severe delay speech, Wolf-Hirschhorn syndrome (WHS)