J Korean Ophthalmol Soc.  1989 Aug;30(4):671-674.

A Case of Laurence-Moon-Biedl Syndrome

Affiliations
  • 1Department of Ophthalmology, School of Medicine, Wonk wang University, Shinyongdong, Iri City, Jeon Buk, Korea.

Abstract

Laurence-Moon-Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, hypogenitalism, polydactylism, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by nystagmus, cataract, syndactylism, microcephaly, oxycephaly and congenital heart diseases. Recently, the authors have experienced a 20-year-old male patient who has retinitis pigmentosa, pendular nystagmus, obesity, hypogenitalism, polydactylism, mental retardation and gynecomastia. We report a case of Laurence-Moon-Biedl syndrome with the review of literature.

Keyword

Laurence-Moon-Biedl syndrome; retinitis pigmentosa; pendular nystagmus; mental retardation; gynecomastia

MeSH Terms

Cataract
Craniosynostoses
Gynecomastia
Heart Diseases
Humans
Intellectual Disability
Laurence-Moon Syndrome*
Male
Microcephaly
Nystagmus, Pathologic
Obesity
Polydactyly
Retinitis Pigmentosa
Young Adult
Full Text Links
  • JKOS
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr