A Case of Laurence-Moon-Biedl Syndrome
Journal of the Korean Ophthalmological Society
;
: 671-674, 1989.
Article
in Korean
| WPRIM
| ID: wpr-135981
ABSTRACT
Laurence-Moon-Biedl syndrome is a rare and autosomal recessive disorder characterized by obesity, hypogenitalism, polydactylism, mental retardation and retinitis pigmentosa. Occasionally, this syndrome is accompanied by nystagmus, cataract, syndactylism, microcephaly, oxycephaly and congenital heart diseases. Recently, the authors have experienced a 20-year-old male patient who has retinitis pigmentosa, pendular nystagmus, obesity, hypogenitalism, polydactylism, mental retardation and gynecomastia. We report a case of Laurence-Moon-Biedl syndrome with the review of literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cataract
/
Retinitis Pigmentosa
/
Nystagmus, Pathologic
/
Polydactyly
/
Craniosynostoses
/
Gynecomastia
/
Heart Diseases
/
Laurence-Moon Syndrome
/
Intellectual Disability
/
Microcephaly
Limits:
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Ophthalmological Society
Year:
1989
Type:
Article
Similar
MEDLINE
...
LILACS
LIS