CLASSICAL features of the Laurence-Moon syndrome are mental retardation, retinitis pigmentosa, obesity, hypogenitalism, and polydactyly.1-3 The limits of the syndrome are poorly defined and are frequently extended to include individuals lacking one or more of the components listed. Complete and incomplete forms have been observed in different members of the same family.4-6 The disorder usually follows the pattern of an autosomal recessive, and evidence derived from sibship analyses and consanguinity is consistent with this mode of inheritance.4,7,8The present report describes the results of clinical, endocrinologic, and cytogenetic studies on five affected sibs, one of whom was found to have a sex-chromosome anomaly.
Materials and Methods
All of the affected members of the family have been inmates of the Rosewood State Training School for at least 15 years. The nature of the disorder was recognized during an earlier study conducted by Smith et al.9 Subsequently, the family was ascertained
BOWEN P, FERGUSON-SMITH MA, MOSIER D, LEE CSN, BUTLER HG. The Laurence-Moon SyndromeAssociation With Hypogonadotrophic Hypogonadism and Sex-Chromosome Aneuploidy. Arch Intern Med. 1965;116(4):598–604. doi:10.1001/archinte.1965.03870040112023