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April 1961

Laurence-Moon-Biedl Syndrome: Report of an Unusual Family

Author Affiliations

Resident in Ophthalmology, (Dr. Ciccarelli); Intern, Children's Medical Service, Massachusetts General Hospital (Dr. Vesell).

Am J Dis Child. 1961;101(4):519-524. doi:10.1001/archpedi.1961.04020050109017

In 1866 Laurence and Moon1 described "Four Cases of 'Retinitis Pigmentosa' Accompanied by General Imperfections of Development." Reports of similar cases by Bardet2 in 1920 and by Biedl3 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

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