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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
[Waardenburg syndrome type I: case report]
Patricia Capua Vieira da Silva1, Paula Rangel, Abelardo Couto
1Departamento de Oculoplástica, Instituto Benjamin Constant, Rio de Janeiro, RJ, Brazil. patriciacapua@gmail.com
Arquivos Brasileiros De Oftalmologia
|September 15, 2011
Summary
Waardenburg syndrome (WS) type I is a rare genetic disorder causing hearing loss and pigment changes. Early diagnosis by ophthalmologists is crucial for managing symptoms and genetic counseling.
Area of Science:
- Genetics
- Ophthalmology
- Pediatrics
Background:
- Waardenburg syndrome (WS) type I is a genetic disorder characterized by sensorineural hearing loss and pigmentary disturbances.
- It presents with dystopia canthorum and has potential associations with neural tube defects, cleft lip/palate, limb abnormalities, and Hirschsprung disease.
Observation:
- This paper details a case of an eleven-year-old boy diagnosed with WS type I.
- The patient presented with deafness and specific ophthalmologic alterations.
Findings:
- The diagnosis of WS type I is primarily clinical, based on major and minor criteria.
- While PAX3 gene mutations are known, diagnosis often relies on clinical presentation, including ophthalmologic findings.
Implications:
- Ophthalmologists play a vital role in the early diagnosis of this rare systemic disease due to associated ocular manifestations.
- Early diagnosis facilitates timely auditory stimulation and enables genetic counseling for affected families, particularly regarding pregnancy planning.
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