皮特-霍普金斯综合征患者的独特口腔发现

IF 0.6 Q4 DENTISTRY, ORAL SURGERY & MEDICINE

Pediatric Dental Journal Pub Date : 2024-12-01 DOI:10.1016/j.pdj.2024.11.002

Momoko Usuda , Tatsuya Akitomo , Yuria Asao, Meiko Tachikake, Chieko Mitsuhata, Ryota Nomura

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引用次数: 0

摘要

背景皮特-霍普金斯综合征（pitt - hopkins Syndrome， PTHS）是一种罕见的由转录因子4杂合性畸形或零突变或缺失引起的综合征。口腔和嘴唇的特征性发现已被报道，但没有研究调查牙齿或牙弓的具体大小。我们报告一位在本院确诊为PTHS的8岁女童。第二磨牙萌出的模型分析显示，中切牙和牙弓比日本女性的平均水平大。结论pths患者前牙及牙弓较宽，可能导致颅面畸形。

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Unique oral finding in a patient with Pitt-Hopkins Syndrome

Background

Pitt-Hopkins Syndrome (PTHS) is a rare syndrome caused by heterozygous hypomorphic or null mutation or deletion of transcription factor 4. Characteristic findings have been reported in the mouth and lips, but no studies have investigated the specific size of the teeth or dental arches.

Case presentation

We report a case of an 8-year-old girl diagnosed with PTHS at our hospital. Model analysis of the second molar eruption revealed that the central incisor and dental arch were larger than average for Japanese females.