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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
Descripción
Sumario: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.