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

瑟斯顿综合征:一例罕见病例的深入分析及文献综述

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Abstract

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, et al. Thurston Syndrome: An Insight of a Rare Case and Literature Review. Int J Clin Pediatr Dent 2024;17(2):206-210.

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