Manifestations of Bardet-Biedl syndrome
Kristine T. Lo, MD, Juancho Remulla, MD, Alvina Pauline Santiago, MD
To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital.
This is a case report.
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.
Bardet-Biedl has ocular and systemic manifestations requiring a multidisciplinary approach to treatment.
Keywords: Bardet-Biedl syndrome, Retinitis pigmentosa, Polydactyly, Hypogenitalism