| 单词 | Labhart-Willi-Prader-Fanconi Syndrome |
| 释义 | Labhart-Willi-Prader-Fanconi Syndrome《英文msh词典》Labhart-Willi-Prader-Fanconi Syndrome [入口词] Labhart-Willi-Prader-Fanconi Syndrome [主题词] Prader-Willi Syndrome [英文释义] A chromosomal disorder associated with a deletion of the proximal portion of the long arm of chromosome 15 (15q11-q13) in the majority of affected individuals. The abnormalities occur exclusively on the paternally derived chromosome 15. Clinical manifestations include MENTAL RETARDATION,muscular hypotonia,OBESITY,hyperphagia,short stature,hypogonadism,strabismus,and hypersomnolence. (Menkes,Textbook of Child Neurology,5th ed,p229) |
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