Manifestations of Bardet - Biedl syndrome
- Author:
Lo Kristine T.
;
Remulla Juancho
;
Santiago Alvina Pauline
- Publication Type:Case Reports
- MeSH:
Human;
Male;
Child;
BARDET-BIEDL SYNDROME;
RETINITIS PIGMENTOSA;
POLYDACTYLY;
OBESITY;
RETINITIS PIGMENTOSA
- From:
Philippine Journal of Ophthalmology
2004;29(2):94-98
- CountryPhilippines
- Language:English
-
Abstract:
Methods: This is a case report.
Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manifestations of the disease: retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities, hypogenitalism, and renal dysfunction.
Conclusion: Bardet-Biedl has ocular and systemic manifestations requiring a multidisciplinary approach to treatment.
