Suppr超能文献

先天性鱼鳞病的牙齿异常:病例报告及文献综述

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature.

作者信息

Maarouf Sarah, Clark Marie, Chen Anthony, Haggstrom Anita

机构信息

Indiana University School of Medicine, Indianapolis, Indiana, USA.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.

出版信息

Pediatr Dermatol. 2025 Mar-Apr;42(2):305-310. doi: 10.1111/pde.15841. Epub 2024 Dec 10.

Abstract

We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration. This review describes subsets of ichthyoses that have been reported in association with dental anomalies, highlighting the need for early dental referral and importance of long-term follow-up.

摘要

我们描述了一名患有角膜炎-鱼鳞病-耳聋(KID)综合征和 natal 牙的 1 日龄女性。基因分析证实了与 KID 综合征一致的 GJB2 263C 和 A88V 新生致病性变异。及时拔除 natal 牙以避免误吸风险。本综述描述了已报道的与牙齿异常相关的鱼鳞病亚组,强调了早期牙科转诊的必要性和长期随访的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e083/11950801/e472bd5570de/PDE-42-305-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验