Journal List > Korean J Pediatr Gastroenterol Nutr > v.6(1) > 1110421

Korean J Pediatr Gastroenterol Nutr. 2003 Mar;6(1):78-83. Korean.
Published online Mar 31, 2003.
Copyright © 2003 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
A Case of Laurence-Moon-Biedl Syndrome
Pil Keun Jeon, Young Hoon Ohn,* Jae Ock Park, and Chang Hwi Kim
Department of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon, Korea.
*Department of Ophthalmology, College of Medicine, Soonchunhyang University, Bucheon, Korea.

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.

Keywords: Laurence-Moon-Biedl syndrome; Retinitis pigmentosa