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Are Bardet-Biedl and Laurence Moon syndromes (BBS and LMS) part of the spectrum of a single disorder? Both syndromes have been described as involving mental retardation, retinal dystrophy, obesity, and hypogenitalism, but patients with LMS reportedly have spasticity, whereas patients with BBS reportedly have polydactyly. Recent studies have identified at least eight disease gene loci for BBS, the more common syndrome, and molecular studies suggest that often (possibly always), abnormal genes must be present in more than one of the loci to produce an affected individual. Thus, BBS is terribly complex, with much inter- and intra-family variability. Neurologic, psychiatric, and developmental delay features are also common.
To further define the…