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Branchio-oculo-facial syndrome
M L Kulkarni1, Shilpa Deshmukh, Ananda Kumar
1Department of Pediatrics, JJM Medical College, Davangere-577 004, India. principal@jjmme.org
Indian Journal of Pediatrics
|September 1, 2005
Summary
Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder affecting facial structures. This study highlights the wide range of symptoms in one family, emphasizing BOFS
Area of Science:
- Genetics and rare diseases
- Craniofacial abnormalities
- Ophthalmology and otolaryngology
Background:
- Branchio-oculo-facial syndrome (BOFS) is an autosomal dominant disorder.
- Characterized by incomplete penetrance and variable phenotypic expression.
- Affects development of eye, ear, oral, and craniofacial structures.
Observation:
- Presents a case study of three family members with BOFS.
- Demonstrates significant variability in clinical presentation.
- Highlights the spectrum of severity in affected individuals.
Findings:
- Confirms the broad phenotypic spectrum of Branchio-oculo-facial syndrome.
- Illustrates challenges in diagnosing BOFS due to variable expression.
- Reviews current literature on genetic and clinical aspects of BOFS.
Implications:
- Enhances understanding of BOFS's genetic basis and clinical variability.
- Aids in improved diagnosis and management of affected individuals.
- Informs genetic counseling for families with Branchio-oculo-facial syndrome.