We reported a case showing characteristic features such as sapphire blue iris, dystopia canthorum, high broad nasal root, synophrys, low anterior hairline, mild frontal bossing and deafmutism
📌 3 Key Takeaways
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Objective & Hypothesis:Waardenburg syndrome is a rare, autosomal dominant disorder, with an incidence of 1 in 40000 that manifests with sensorineural deafness and pigmentation defects. it is classified into four types depending on the presence or absence of additional symptoms.
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Key Findings & Data:Waardenburg syndrome can be diagnosed easily in first few month of life because of prominent phenotypic features.
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Conclusion & Impact:We reported a case showing characteristic features such as sapphire blue iris, dystopia canthorum, high broad nasal root, synophrys, low anterior hairline, mild frontal bossing and deafmutism
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Waardenburg syndrome is a rare, autosomal dominant disorder, with an incidence of 1 in 40000 that manifests with sensorineural deafness and pigmentation defects. it is classified into four types depending on the presence or absence of additional symptoms. Waardenburg syndrome can be diagnosed easily in first few month of life because of prominent phenotypic features. The earlier diagnosis means the more successful rehabilitation of hearing. We reported a case showing characteristic features such as sapphire blue iris, dystopia canthorum, high broad nasal root, synophrys, low anterior hairline, mild frontal bossing and deafmutism
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Cite This Article
TATLI, M. M., ŞAN, İ., ÖZKUL, Y., GÜREL, M. (2022). Phenotypic features of Waardenburg syndrome type: A case report. Annals of Medical Sciences, Cilt: 11 - Sayı: 1, 25–27. https://ajindex.com/articles/447431
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