No abstract available.
Laurence-Moon Syndrome*

No abstract available.
Laurence-Moon Syndrome*

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.
Adolescent ; Female ; Humans ; Hypogonadism ; Intellectual Disability ; Laurence-Moon Syndrome* ; Male ; Obesity ; Polydactyly ; Retinal Degeneration ; Syndactyly

A case of Laurence-Moon-Biedl Syndrome in 13-year-old Korean boy was reported with some clinical observation. Visual disturbance and night blindness were his chief complaints for about 3 years prior to visit our hospital. Visual acuity was 0.4 (O.S.,N.C.), 0.15 (O.D.,N.C.) and peripheral visual field was concentrically constricted with 30 degrees (0.5.), 15 degrees (O.D.). He had the atypical pigmentary retinal degeneration (O.D.) associated with obesity, polydactyly, mental retardation, hypogenitalism and macular degeneration (O.D.), but coudn't found the hereditary occurrence.
Adolescent ; Humans ; Intellectual Disability ; Laurence-Moon Syndrome* ; Macular Degeneration ; Male ; Night Blindness ; Obesity ; Polydactyly ; Retinal Degeneration ; Visual Acuity ; Visual Fields

A case of Laurence-Moon-Biedl Syndrome in 13-year-old Korean boy was reported with some clinical observation. Visual disturbance and night blindness were his chief complaints for about 3 years prior to visit our hospital. Visual acuity was 0.4 (O.S.,N.C.), 0.15 (O.D.,N.C.) and peripheral visual field was concentrically constricted with 30 degrees (0.5.), 15 degrees (O.D.). He had the atypical pigmentary retinal degeneration (O.D.) associated with obesity, polydactyly, mental retardation, hypogenitalism and macular degeneration (O.D.), but coudn't found the hereditary occurrence.
Adolescent ; Humans ; Intellectual Disability ; Laurence-Moon Syndrome* ; Macular Degeneration ; Male ; Night Blindness ; Obesity ; Polydactyly ; Retinal Degeneration ; Visual Acuity ; Visual Fields

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.
Cataract ; Child ; Craniosynostoses ; Female ; Heart Defects, Congenital ; Humans ; Intellectual Disability ; Laurence-Moon Syndrome* ; Microcephaly ; Obesity ; Polydactyly ; Retinitis Pigmentosa ; Syndactyly

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.
Cataract ; Craniosynostoses ; Gynecomastia ; Heart Diseases ; Humans ; Intellectual Disability ; Laurence-Moon Syndrome* ; Male ; Microcephaly ; Nystagmus, Pathologic ; Obesity ; Polydactyly ; Retinitis Pigmentosa ; Young Adult

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.
Cataract ; Craniosynostoses ; Gynecomastia ; Heart Diseases ; Humans ; Intellectual Disability ; Laurence-Moon Syndrome* ; Male ; Microcephaly ; Nystagmus, Pathologic ; Obesity ; Polydactyly ; Retinitis Pigmentosa ; Young Adult