당뇨병과 흑색극세포증을 동반한 Laurence - Moon - Biedl 증후군 1 예

Laurence-Moon-Biedl syndrome is characterized by obesity, mental retardation, polydactyly, hypogonadism, spastic paraparesis, and pigmented retinal dystrophy. We report a 19-year-old girl with Laurence-Moon- Biedl syndrome who showed obesity, polydactyly, mental retardation, and retinitis pigmentosa...

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Veröffentlicht in:The Korean journal of medicine 1994-08, Vol.47 (2), p.276
Hauptverfasser: 위대철, Tae Cheol Wee, 윤철승, Cheol Seung Yoon, 김훤, Hueon Kim, 임동명, Dong Myeng Im, 김순호, Soon Ho Kim, 임중규, Choong Kyue Im, 허진득, Chin Deuk Huh
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Sprache:kor
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Zusammenfassung:Laurence-Moon-Biedl syndrome is characterized by obesity, mental retardation, polydactyly, hypogonadism, spastic paraparesis, and pigmented retinal dystrophy. We report a 19-year-old girl with Laurence-Moon- Biedl syndrome who showed obesity, polydactyly, mental retardation, and retinitis pigmentosa. In addition, she was found to have acanthosis nigricans and diabetes mellitus with insulin resistance. This suggests the Laurence-Moon-Biedl syndrome has a variable expression.
ISSN:1738-9364