A Case of Pitt-Hopkins Syndrome Presented with Angelman-like Syndromic Phenotypes

Overview

Journal Biomedicine (Taipei)

Specialty Biomedical Engineering

Date 2016 Nov 20

PMID 27864810

Citations 1

Authors

Syuan-Yu Hong

I-Ching Chou

Wei-De Lin

Fuu-Jen Tsai

Affiliations

Soon will be listed here.

Abstract

Pitt-Hopkins syndrome (PTHS), caused by a TCF4 gene mutation, is a condition characterized by intellectual disability and developmental delay, breathing anomalies, epilepsy, and distinctive facial dysmorphism [1]. Its diverse clinical appearance causes pediatricians to confuse it with Angelman syndrome, which is considered one of the family members of Angelman-like syndrome. Herein, we report on a 4 y/o boy with PTHS and discuss its similarities and differences with Angelman syndrome. In doing so we hope to provide a feasible pathway to diagnose rare diseases, especially Angelman-like syndrome.

Citing Articles

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.

Hassona Y, Alqaisi D, Alkilani A, AbuHijleh I BMC Oral Health. 2024; 24(1):597.

PMID: 38778377 PMC: 11112874. DOI: 10.1186/s12903-024-04296-5.

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