All of DSpace

Show simple item record

Delayed diagnosis of Prader-Willi syndrome in a 24 year-old patient

dc.creatorKyriazis, I. A.en
dc.creatorMendrinos, D.en
dc.creatorSaridi, M.en
dc.creatorRekliti, M.en
dc.creatorToska, A.en
dc.creatorWozniak, G.en
dc.creatorRoupa, Z.en
dc.date.accessioned2015-11-23T10:37:18Z
dc.date.available2015-11-23T10:37:18Z
dc.date.issued2010
dc.identifier.issn19415923
dc.identifier.urihttp://hdl.handle.net/11615/30121
dc.description.abstractBackground: Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. The purpose of the study was to present the case of a delayed diagnosis of PWS in a 24-year-old male and the importance of an early PWS diagnosis as well as behavioral and institutional treatment issues. Case Report: A young man presented with a history of hyperphagia, severe obesity, and mental retardation. From his history, laboratory data, and molecular analysis using a DNA marker it was decided that he was affected by PWS. Conclusions: As healthcare professionals, we emphasize the need for approaching each person who has PWS as an individual and to be sensitive to traits and choose the most appropriate therapeutic approach. © The American Journal of Case Reports, 2010.en
dc.source.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-78649371450&partnerID=40&md5=98995aaa147156f94a5e0a9c14bb7b8e
dc.subjectCryptorchidismen
dc.subjectGenetic syndromen
dc.subjectObesityen
dc.subjectPrader-Willi Syndrome (PWS)en
dc.subjectDNA markeren
dc.subjectgrowth hormoneen
dc.subjectsibutramineen
dc.subjectsomatomedin binding protein 3en
dc.subjecttestosteroneen
dc.subjectabnormal behavioren
dc.subjectacademic achievementen
dc.subjectadulten
dc.subjectanamnesisen
dc.subjectarticleen
dc.subjectcase reporten
dc.subjectchromosome 15qen
dc.subjectcognitive defecten
dc.subjectdelayed diagnosisen
dc.subjectface malformationen
dc.subjectgrowth hormone blood levelen
dc.subjecthumanen
dc.subjecthyperphagiaen
dc.subjectlearning disorderen
dc.subjectlow calory dieten
dc.subjectmaleen
dc.subjectmental deficiencyen
dc.subjectmyopiaen
dc.subjectpalpebral fissure anomalyen
dc.subjectphysical activityen
dc.subjectPrader Willi syndromeen
dc.subjectquantitative analysisen
dc.subjectrespiratory tract infectionen
dc.subjectshort statureen
dc.subjectSouthern blottingen
dc.subjectspeech disorderen
dc.subjecttestosterone blood levelen
dc.subjectweight gainen
dc.titleDelayed diagnosis of Prader-Willi syndrome in a 24 year-old patienten
dc.typejournalArticleen


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record