A Rare Case of Bardet-Biedl Syndrome
Overview
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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.
Laurence-moon-biedl-bardet syndrome: An overview.
Rissardo J, Caprara A Taiwan J Ophthalmol. 2021; 11(1):108-109.
PMID: 33767966 PMC: 7971431. DOI: 10.4103/tjo.tjo_2_20.