Laurence-Moon-Biedl Syndrome

1 April 1961

journal article
research article
Published by American Medical Association (AMA) in American Journal of Diseases of Children

Vol. 101 (4) , 519-524
https://doi.org/10.1001/archpedi.1961.04020050109017

Abstract

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

Keywords

LAURENCE-MOON-BIEDL SYNDROME/GENETICS

This publication has 1 reference indexed in Scilit:

STEROID HYDROXYLATION IN HUMAN FETAL ADRENALS¹
Endocrinology, 1959