Bardet-biedl Syndrome in Two Siblings: a Rare Entity Revisited
Year: 2025
Type: article
Abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy affecting multiple organ systems with significant clinical heterogeneity. We report two siblings, aged 5 and 7 years, born to consanguineous parents, presenting with characteristic BBS features. The 5-year-old female had medically refractory epilepsy, severe obesity (BMI 25 kg/m²), postaxial polydactyly, syndactyly, retinal dystrophy, and night blindness. Her 7-year-old brother exhibited obesity (BMI 24 kg/m²), bilateral postaxial polydactyly, retinal dystrophy, micropenis, and mild hearing loss. Both patients met diagnostic criteria with multiple major criteria. Ophthalmological evaluation confirmed rod-cone dystrophy bilaterally. The female patient's drug-resistant epilepsy represents a rare neurological complication affecting approximately 12% of BBS patients. This case highlights phenotypic variability and emphasizes early recognition for multidisciplinary management. BBS should be considered in differential diagnosis of early-onset obesity with polydactyly and retinal abnormalities, particularly in consanguineous families.
Author: S. Boujmila*, A. Laarajeb, A. Radib, S. Ait Hmaddouchb, A. Hassanib, R. Abilkassemb
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7083699510
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