The Laurence-Moon-Biedl Syndrome in a Family. |
Dong Uk Choi, Yeong Keun Kim, Joo Hwa Lee |
Department of Ophthalmology, School of Medicine, Inje University, Seoul, Korea. |
한가족에 발생한 Laurence - Moon - Biedl Syndrome |
최동욱(Dong Uk Choi),김영건(Yeong Keun Kim),이주화(Joo Hwa Lee) |
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Abstract |
Laurence-Moon-Biedl syndrome is a rare inherited disorder and its common findings include pigmentary retinal degeneration, obesity, hypogonadism, mental retardation and digital anomaly. Recently, the authors experienced two cases of Laurence-Moon-Biedl syndrome in a family of 15 year-old male and 17 year-old female. In our cases, the male patient showed syndactyly and polydactyly, chorioretinal degeneration, hypogonadism and female patient showed polydactyly, chorioretinal degeneration, hypogonadism, obesity and mental retardation. |
Key Words:
Laurence-Moon-Biedl syndrome;pigmentary retinal degeneration |
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