瑟斯顿综合征：一例罕见病例的见解及文献综述

Thurston Syndrome: An Insight of a Rare Case and Literature Review.

作者信息

Sreekumar Dhwani, Dutta Brahmananda, Dhull Kanika S, Bhuyan Lipsa

机构信息

Department of Pediatric and Preventive Dentistry, Kalinga Institute of Dental Sciences (KIDS), KIIT Deemed to be University, Bhubaneswar, Odisha, India.

Department of Oral and Maxillofacial Pathology, Kalinga Institute of Dental Sciences (KIDS), KIIT Deemed to be University, Bhubaneswar, Odisha, India.

出版信息

Int J Clin Pediatr Dent. 2024 Feb;17(2):206-210. doi: 10.5005/jp-journals-10005-2764.

DOI:10.5005/jp-journals-10005-2764

PMID:39184898

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11339482/

Abstract

UNLABELLED

This article reports an infant presented with multiple congenital abnormalities, which is considered a rare case. A 2-month-old girl presented with cleft palate, lobulated tongue, frontal bossing, postaxial polydactyly of hands, and other clinical manifestations involving oral, facial, and digital malformations. Hence, a provisional diagnosis of oral-facial-digital syndrome (OFDS), a rare genetic disorder, was contemplated. A genetic test was undertaken, and a confirmatory diagnosis of OFDS type-V (Thurston syndrome) was made. A brief description of the case and literature review of OFDS, including various aspects like etiology, inheritance, clinical features, and management, are discussed here.

HOW TO CITE THIS ARTICLE

Sreekumar D, Dutta B, Dhull KS, Thurston Syndrome: An Insight of a Rare Case and Literature Review. Int J Clin Pediatr Dent 2024;17(2):206-210.

摘要

未标注

本文报道了一名患有多种先天性异常的婴儿，这被认为是一个罕见病例。一名2个月大的女孩出现腭裂、分叶状舌、额部突出、手部轴后多指畸形以及其他涉及口腔、面部和手指畸形的临床表现。因此，考虑初步诊断为口腔-面部-手指综合征（OFDS），这是一种罕见的遗传性疾病。进行了基因检测，确诊为V型OFDS（瑟斯顿综合征）。本文讨论了该病例的简要描述以及OFDS的文献综述，包括病因、遗传、临床特征和治疗等各个方面。