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Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349262/ https://www.ncbi.nlm.nih.gov/pubmed/32481733 http://dx.doi.org/10.3390/genes11060596 |
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author | Tripon, Florin Bogliș, Alina Micheu, Cristian Streață, Ioana Bănescu, Claudia |
author_facet | Tripon, Florin Bogliș, Alina Micheu, Cristian Streață, Ioana Bănescu, Claudia |
author_sort | Tripon, Florin |
collection | PubMed |
description | Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants starting from exon 9 to exon 20 associate a typical PTHS phenotype. In this report, we describe the clinical and molecular findings of a Caucasian boy diagnosed with PTHS. PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid’s bow, downturned corners of the mouth, microdontia and also the clinical management of the patient. The previously and the current diagnosis scores are described in this report and also the challenges and their benefits for an accurate and early diagnosis. |
format | Online Article Text |
id | pubmed-7349262 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-73492622020-07-22 Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient Tripon, Florin Bogliș, Alina Micheu, Cristian Streață, Ioana Bănescu, Claudia Genes (Basel) Case Report Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in the TCF4 gene associate mild intellectual disability (ID), between exons 5 to 8, moderate to severe ID and sometimes have some of the characteristics of PTHS, and variants starting from exon 9 to exon 20 associate a typical PTHS phenotype. In this report, we describe the clinical and molecular findings of a Caucasian boy diagnosed with PTHS. PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema, full cheeks, short philtrum, wide mouth with prominent and everted lips, prominent Cupid’s bow, downturned corners of the mouth, microdontia and also the clinical management of the patient. The previously and the current diagnosis scores are described in this report and also the challenges and their benefits for an accurate and early diagnosis. MDPI 2020-05-28 /pmc/articles/PMC7349262/ /pubmed/32481733 http://dx.doi.org/10.3390/genes11060596 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Tripon, Florin Bogliș, Alina Micheu, Cristian Streață, Ioana Bănescu, Claudia Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title | Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_full | Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_fullStr | Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_full_unstemmed | Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_short | Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient |
title_sort | pitt-hopkins syndrome: clinical and molecular findings of a 5-year-old patient |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349262/ https://www.ncbi.nlm.nih.gov/pubmed/32481733 http://dx.doi.org/10.3390/genes11060596 |
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