Korean J Pediatr Gastroenterol Nutr.
2003 Mar;6(1):78-83.
A Case of Laurence-Moon-Biedl Syndrome
- Affiliations
-
- 1Department of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon, Korea. jop50@schbc.ac.kr
- 2Department of Ophthalmology, College of Medicine, Soonchunhyang University, Bucheon, Korea.
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.
