Laurence-Moon-Biedl 증후군 1례
- Alternative Title
- A Case of Laurence-Moon-Biedl Syndrome
- 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.
- All Author(s)
- P. K. Jeon
; Y. H. Ohn
; J. O. Park
; C. H. Kim
- Issued Date
- 2003
- Type
- Article
- Keyword
- Laurence-Moon-Biedl syndrome; Retinitis pigmentosa
- Publisher
- 대한소아소화기영양학회
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
- ISSN
- 1229-0114
; 2093-5633
- Citation Title
- 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
- Citation Volume
- 6
- Citation Number
- 1
- Citation Start Page
- 78
- Citation End Page
- 83
- Language(ISO)
- kor
- DOI
- 10.5223/kjpgn.2003.6.1.78
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/2954
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