A Case of Laurence-Moon-Biedl Syndrome.
- Author:
Pil Keun JEON
1
;
Young Hoon OHN
;
Jae Ock PARK
;
Chang Hwi KIM
Author Information
1. Department of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon, Korea. jop50@schbc.ac.kr
- Publication Type:Case Report
- Keywords:
Laurence-Moon-Biedl syndrome;
Retinitis pigmentosa
- MeSH:
Cataract;
Child;
Craniosynostoses;
Female;
Heart Defects, Congenital;
Humans;
Intellectual Disability;
Laurence-Moon Syndrome*;
Microcephaly;
Obesity;
Polydactyly;
Retinitis Pigmentosa;
Syndactyly
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2003;6(1):78-83
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Laurence-Moon-Biedl syndrome is an autosomal recessive disorder characterized by obesity, hypogenitalism, polydactyly, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by renal anomaly, nystagmus, cataract, syndactyly, microcephaly, oxycephaly and congenital heart disease. Recently, we have experienced a 8-year-old female patient who has retinitis pigmentosa, obesity, and polydactyly. We report a case of Laurence-Moon-Biedl syndrome with a review of literature.
