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October 1965

The Laurence-Moon Syndrome: Association With Hypogonadotrophic Hypogonadism and Sex-Chromosome Aneuploidy

Author Affiliations


From the Division of Medical Genetics, Department of Medicine, Johns Hopkins University School of Medicine and the Rosewood State Training School, Owings Mills, Md. Present addresses: Department of Pediatrics, University of Alberta Hospital, Edmonton, Alberta, Canada (Drs. Bowen and Lee); Department of Genetics, The University, Glasgow, Scotland (Dr. Ferguson-Smith); and Illinois State Pediatric Institute, 1640 W Roosevelt Rd, Chicago (Dr. Mosier).

Arch Intern Med. 1965;116(4):598-604. doi:10.1001/archinte.1965.03870040112023

Introduction  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