A CASE OF PRADER WILLI SYNDROME
Abstract
Abstract : Prader willi syndrome is a rare genetic disorder due to genomic imprinting, in which seven genes (or some subset thereof) on chromosome 15 (q 1113) are deleted or unexpressed (chromosome 15q partial deletion ) on the paternal chromosome.Prader willi syndrome is characterised by low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity. For the genes affected in PWS, it is the maternal copy that is usually imprinted or silenced, while the paternal copy is expressed. Growth hormone is licensed for use in prader willi syndrome. We present this case for its rarity.
Keyword :PRADER WILLI SYNDROME, SHORT STATURE, BEHAVIORAL PROBLEMS, CENTRAL OBESITY,HYPOGONADISM,MENTAL RETARDATION.
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