AI Article Synopsis
- An unusual case of a 2-month-old girl with multiple congenital abnormalities was reported, including cleft palate and polydactyly, raising suspicion for an oral-facial-digital syndrome (OFDS).
- Genetic testing confirmed the diagnosis as OFDS type-V, also known as Thurston syndrome.
- The article provides a summary of the case along with a literature review on OFDS, covering its causes, inheritance patterns, symptoms, and potential management options.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11339482 | PMC |
| http://dx.doi.org/10.5005/jp-journals-10005-2764 | DOI Listing |
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Article Synopsis
- An unusual case of a 2-month-old girl with multiple congenital abnormalities was reported, including cleft palate and polydactyly, raising suspicion for an oral-facial-digital syndrome (OFDS).
- Genetic testing confirmed the diagnosis as OFDS type-V, also known as Thurston syndrome.
- The article provides a summary of the case along with a literature review on OFDS, covering its causes, inheritance patterns, symptoms, and potential management options.
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