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Laurence-Moon-Biedl Syndrome

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Abstract

The Laurence-Moon-Biedl syndrome was first described by Laurence and M o on in the British Journal of Ophthalmology in 1866. Further reports by Bardet1 in 1920 and by Biedl2 in 1922 resulted in the application of the terms Biedl-Bardet syndrome and Laurence-Biedl syndrome in some instances. The condition is uncommon, only 129 cases having been reported until the middle of 1940, according to Schwartz and Boudreau3.

The following features are characteristic of the condition: (1) Mental retardation, (2) pigmentary degeneration of the retina, (3) adiposo-genital dystrophy, (4) familial occurrence, and (5) polydactylism or syndactylism. The presence of all of these characteristics is not a fundamental necessity in the establishment of the diagnosis, but when one or more is absent, a familial occurrence would appear to be a reasonable requirement, as mentioned by Molitch, et al.4 Of the 77 cases (including 4 of their own) in the world literature until 1932, reviewed by Reilly and Lisser5, only 25 presented all of the typical findings. Other anomalies have been reported by various observers, and include nystagmus, night blindness, atresia ani, various additional skeletel abnormalities, and deafness, among others.

The pathogenesis of the disorder is incompletely understood. The familial occurrence is significant. Numerous reports are available in which are recorded the finding of one or more characteristics of the condition in antecedents of affected individuals. There have been no instances reported indicating inheritance of the entire complex, although, as mentioned by Sorsby, Avery and Cockayne6, there have been case records which indicate that. . .


 

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