Open AccessA rare case of Bardet–Biedl syndrome
Author(s) -
Shrinkhal,
Anupam Singh,
Ajai Agrawal,
Sanjeev Mittal,
Hemlata Udenia,
Ghawghawe Harshad Bandu
Publication year - 2020
Publication title -
taiwan journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.519
H-Index - 9
eISSN - 2211-5072
pISSN - 2211-5056
DOI - 10.4103/tjo.tjo_62_19
Subject(s) - bardet–biedl syndrome , polydactyly , medicine , syndactyly , pediatrics , surgery , anatomy , biochemistry , chemistry , gene , phenotype
We report here a rare case of Bardet-Biedl syndrome (BBS). A 7-year-old boy was diagnosed to have BBS based on the clinical features: retinitis pigmentosa sine pigmento, obesity, postaxial polydactyly, syndactyly, and hypogenitalism. It was associated with mild hepatomegaly with deranged liver function test and mild renal involvement radiologically, high-arched palate, and low intelligence quotient. The patient was prescribed proper refractive correction and subjected to multidisciplinary management. BBS has ocular and systemic manifestations, requiring a multidisciplinary approach to treatment.