A Case of Laurence-Moon-Biedl Syndrome.
- Author:
Sang Duck KIM
1
;
Yoo Kang KIM
;
Jae Duck KIM
Author Information
1. Department of Ophthalmology, School of Medicine, Wonk wang University, Shinyongdong, Iri City, Jeon Buk, Korea.
- Publication Type:Case Report
- Keywords:
Laurence-Moon-Biedl syndrome;
retinitis pigmentosa;
pendular nystagmus;
mental retardation;
gynecomastia
- MeSH:
Cataract;
Craniosynostoses;
Gynecomastia;
Heart Diseases;
Humans;
Intellectual Disability;
Laurence-Moon Syndrome*;
Male;
Microcephaly;
Nystagmus, Pathologic;
Obesity;
Polydactyly;
Retinitis Pigmentosa;
Young Adult
- From:Journal of the Korean Ophthalmological Society
1989;30(4):671-674
- CountryRepublic of Korea
- Language:Korean
-
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.
