Читать книгу Clinical Obesity in Adults and Children - Группа авторов - Страница 76

Bardet–Biedl syndrome (BBS) is a rare (prevalence <1/100,000) autosomal recessive disease characterized by obesity, learning difficulties, syndactyly, brachydactyly or polydactyly, retinal dystrophy or pigmentary retinopathy, hypogonadism, and renal abnormalities. The differential diagnosis includes Biemond syndrome II (iris coloboma, hypogenitalism, obesity, polydactyly, and mental retardation) and Alstrom syndrome (retinitis pigmentosa, obesity, diabetes mellitus, and deafness but without developmental delay). Bardet–Biedl syndrome is a genetically heterogeneous disorder, with over 16 genes involved in the structure and/or function of the basal body, a modified centriole which is essential for the function of non‐motile cilia [18].