Thurston Syndrome: An Insight of a Rare Case and Literature Review
Dhwani Sreekumar, Brahmananda Dutta, Kanika S Dhull, Lipsa Bhuyan
Keywords :
Case report, Oral-facial-digital syndrome, Polydactyly, Thurston syndrome
Citation Information :
Sreekumar D, Dutta B, Dhull KS, Bhuyan L. Thurston Syndrome: An Insight of a Rare Case and Literature Review. Int J Clin Pediatr Dent 2024; 17 (2):206-210.
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.
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