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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Witkop's syndrome: a mild phenotype variant of ectodermal dysplasia
Shama Majalkare1, Ananya Madiyal2, Vidya Ajila3
1Oral Medicine and Radiology, Coorg Institute of Dental Science, Kodagu, KA, India.
BMJ Case Reports
|June 24, 2025
Summary
Witkop's syndrome, a mild ectodermal dysplasia variant, presents with dental and nail issues due to MSX1 gene mutations. Early diagnosis by dentists is crucial to prevent patient distress.
Area of Science:
- Genetics
- Oral Medicine
- Dermatology
Background:
- Witkop's syndrome is a mild ectodermal dysplasia variant.
- It is characterized by hypodontia, altered tooth morphology, and nail dysplasia.
- Unlike classic ectodermal dysplasia, it lacks hair and sweat gland abnormalities.
Purpose of the Study:
- To enhance clinical awareness of Witkop's syndrome.
- To highlight the importance of early diagnosis and management by dentists.
- To present a case of Witkop's syndrome in an adolescent female.
Main Methods:
- Case report presentation.
- Review of clinical features and genetic basis (MSX1 gene mutation).
- Discussion of diagnostic challenges and management strategies.
Main Results:
- The patient presented with aesthetic concerns related to dental anomalies.
- Witkop's syndrome diagnosis was confirmed.
- The subtle presentation contributed to potential diagnostic delays.
Conclusions:
- Witkop's syndrome is underdiagnosed due to its mild presentation.
- Dentists are key in identifying and managing this condition.
- Timely diagnosis prevents functional, aesthetic, and psychological issues.
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