A Case of Laurence-Moon-Biedl Syndrome / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
;
: 78-83, 2003.
Article
in Korean
| WPRIM
| ID: wpr-117989
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cataract
/
Retinitis Pigmentosa
/
Polydactyly
/
Syndactyly
/
Craniosynostoses
/
Heart Defects, Congenital
/
Laurence-Moon Syndrome
/
Intellectual Disability
/
Microcephaly
/
Obesity
Limits:
Child
/
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Pediatric Gastroenterology and Nutrition
Year:
2003
Type:
Article
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