Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Tripon, Florin, Bogliș, Alina, Micheu, Cristian, Streață, Ioana, Bănescu, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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
_version_ 1783557022219763712
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
work_keys_str_mv AT triponflorin pitthopkinssyndromeclinicalandmolecularfindingsofa5yearoldpatient
AT boglisalina pitthopkinssyndromeclinicalandmolecularfindingsofa5yearoldpatient
AT micheucristian pitthopkinssyndromeclinicalandmolecularfindingsofa5yearoldpatient
AT streataioana pitthopkinssyndromeclinicalandmolecularfindingsofa5yearoldpatient
AT banescuclaudia pitthopkinssyndromeclinicalandmolecularfindingsofa5yearoldpatient