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Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review

Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ s...

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Autores principales: Gavril, Eva-Cristiana, Luca, Alina Costina, Curpan, Alexandrina-Stefania, Popescu, Roxana, Resmerita, Irina, Panzaru, Monica Cristina, Butnariu, Lacramioara Ionela, Gorduza, Eusebiu Vlad, Gramescu, Mihaela, Rusu, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471045/
https://www.ncbi.nlm.nih.gov/pubmed/34572183
http://dx.doi.org/10.3390/children8090751
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author Gavril, Eva-Cristiana
Luca, Alina Costina
Curpan, Alexandrina-Stefania
Popescu, Roxana
Resmerita, Irina
Panzaru, Monica Cristina
Butnariu, Lacramioara Ionela
Gorduza, Eusebiu Vlad
Gramescu, Mihaela
Rusu, Cristina
author_facet Gavril, Eva-Cristiana
Luca, Alina Costina
Curpan, Alexandrina-Stefania
Popescu, Roxana
Resmerita, Irina
Panzaru, Monica Cristina
Butnariu, Lacramioara Ionela
Gorduza, Eusebiu Vlad
Gramescu, Mihaela
Rusu, Cristina
author_sort Gavril, Eva-Cristiana
collection PubMed
description Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.
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spelling pubmed-84710452021-09-27 Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review Gavril, Eva-Cristiana Luca, Alina Costina Curpan, Alexandrina-Stefania Popescu, Roxana Resmerita, Irina Panzaru, Monica Cristina Butnariu, Lacramioara Ionela Gorduza, Eusebiu Vlad Gramescu, Mihaela Rusu, Cristina Children (Basel) Case Report Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations. MDPI 2021-08-30 /pmc/articles/PMC8471045/ /pubmed/34572183 http://dx.doi.org/10.3390/children8090751 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Gavril, Eva-Cristiana
Luca, Alina Costina
Curpan, Alexandrina-Stefania
Popescu, Roxana
Resmerita, Irina
Panzaru, Monica Cristina
Butnariu, Lacramioara Ionela
Gorduza, Eusebiu Vlad
Gramescu, Mihaela
Rusu, Cristina
Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
title Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
title_full Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
title_fullStr Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
title_full_unstemmed Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
title_short Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
title_sort wolf-hirschhorn syndrome: clinical and genetic study of 7 new cases, and mini review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471045/
https://www.ncbi.nlm.nih.gov/pubmed/34572183
http://dx.doi.org/10.3390/children8090751
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