Bardet-Biedl Syndrome
Genetic study differentiates BBS from Meckel syndrome at antenatal presentation
Published in Obesity and Diabetes Week, April 11th, 2005
According to a study from France, "Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1 - BBS8) have been identified to date."
"A mutation of the BBS1 gene on chromosome 11q13 is observed in 30-40% of BBS cases. In addition, a complex triallelic inheritance has...
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