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Open AccessCase Report

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

1
Laboratory of Medical Genetics, Emergency Clinical County Hospital Târgu Mureș, 540136 Târgu Mureș, Romania
2
Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania
3
Laboratory of Molecular Biology/Genetics, Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, 540142 Târgu Mureș, Romania
4
Child Neurology Psychiatry Clinic, Clinical County Hospital Mureș, 540072 Târgu Mureş, Romania
5
Regional Center for Medical Genetics Dolj—Clinical County Emergency Hospital Craiova, University of Medicine and Pharmacy Craiova, 200642 Craiova, Romania
*
Author to whom correspondence should be addressed.
Genes 2020, 11(6), 596; https://doi.org/10.3390/genes11060596
Received: 14 April 2020 / Revised: 20 May 2020 / Accepted: 27 May 2020 / Published: 28 May 2020
(This article belongs to the Special Issue Molecular Genetics of Facial Traits and Malformations)
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. View Full-Text
Keywords: Pitt-Hopkins syndrome; TCF4 deletion; neurodevelopment disorder; Face2Gene Pitt-Hopkins syndrome; TCF4 deletion; neurodevelopment disorder; Face2Gene
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MDPI and ACS Style

Tripon, F.; Bogliș, A.; Micheu, C.; Streață, I.; Bănescu, C. Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Genes 2020, 11, 596. https://doi.org/10.3390/genes11060596

AMA Style

Tripon F, Bogliș A, Micheu C, Streață I, Bănescu C. Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Genes. 2020; 11(6):596. https://doi.org/10.3390/genes11060596

Chicago/Turabian Style

Tripon, Florin; Bogliș, Alina; Micheu, Cristian; Streață, Ioana; Bănescu, Claudia. 2020. "Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient" Genes 11, no. 6: 596. https://doi.org/10.3390/genes11060596

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