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Laurence-Moon-Biedl Syndrome

1961; American Medical Association; Volume: 101; Issue: 4 Linguagem: Inglês

10.1001/archpedi.1961.04020050109017

2374-3018

Eugene C. Ciccarelli,

Genetic Syndromes and Imprinting

In 1866 Laurence and Moon 1 described "Four Cases of 'Retinitis Pigmentosa' Accompanied by General Imperfections of Development." Reports of similar cases by Bardet 2 in 1920 and by Biedl 3 in 1922 helped clarify the condition by emphasizing the salient features of adiposity, hypogenitalism, polydactylism, mental retardation, and retinitis pigmentosa. In combination, these 5 defects are called the Laurence-Moon-Biedl syndrome. More than 280 cases of this rare, recessively inherited disease appear in the literature. This report presents studies of 2 siblings from a family exhibiting a variety of phenotypic expressions of the genetic defect responsible for the Laurence-Moon-Biedl syndrome. The spectrum ranges from a complete expression in 1 sibling to an incomplete expression in 2 siblings, and finally to a pleomorphic expression in a sibling with nystagmus, mental retardation, kyphoscoliosis, pes cavus, and mild spasticity. Report of Cases Family Histroy .—The family, derived from Irish and English stock, lived