| A Case of Laurence-Moon-Biedl Syndrome. |
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Sang Duck Kim, Yoo Kang Kim, Jae Duck Kim |
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Department of Ophthalmology, School of Medicine, Wonk wang University, Shinyongdong, Iri City, Jeon Buk, Korea. |
| Laurence - Moon - Biedl 증후군 1 예 |
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김재덕(Jae Duck Kim),김상덕(Sang Duck Kim),김유강(Yoo Kang Kim) |
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| Abstract |
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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. |
| Key Words:
Laurence-Moon-Biedl syndrome;retinitis pigmentosa;pendular nystagmus;mental retardation;gynecomastia |
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