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

dc.contributor.authorKyriazis, Ioannisen
dc.contributor.authorMendrinos, D.en
dc.contributor.authorSaridi, Mariaen
dc.contributor.authorRekleiti, Mariaen
dc.contributor.authorToska, Aikaterinien
dc.contributor.authorWozniak, Gretaen
dc.contributor.authorRoupa, Z.en
dc.creatorKyriazis, Ioannisen
dc.creatorMendrinos, D.en
dc.creatorSaridi, Mariaen
dc.creatorRekleiti, Mariaen
dc.creatorToska, Aikaterinien
dc.creatorWozniak, Gretaen
dc.creatorRoupa, Z.en
dc.date.accessioned2018-06-22T09:53:58Z
dc.date.available2018-06-22T09:53:58Z
dc.date.issued2010
dc.identifier.urihttps://gnosis.library.ucy.ac.cy/handle/7/42128
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.language.isoengen
dc.sourceAmerican Journal of Case Reportsen
dc.subjectArticleen
dc.subjectHumanen
dc.subjectAdulten
dc.subjectQuantitative analysisen
dc.subjectMental deficiencyen
dc.subjectMaleen
dc.subjectCase reporten
dc.subjectPhysical activityen
dc.subjectHyperphagiaen
dc.subjectObesityen
dc.subjectCryptorchidismen
dc.subjectAnamnesisen
dc.subjectRespiratory tract infectionen
dc.subjectAbnormal behavioren
dc.subjectAcademic achievementen
dc.subjectChromosome 15qen
dc.subjectCognitive defecten
dc.subjectDelayed diagnosisen
dc.subjectDna markeren
dc.subjectFace malformationen
dc.subjectGenetic syndromen
dc.subjectGrowth hormoneen
dc.subjectGrowth hormone blood levelen
dc.subjectLearning disorderen
dc.subjectLow calory dieten
dc.subjectMyopiaen
dc.subjectPalpebral fissure anomalyen
dc.subjectPrader willi syndromeen
dc.subjectPrader-willi syndrome (pws)en
dc.subjectShort statureen
dc.subjectSibutramineen
dc.subjectSomatomedin binding protein 3en
dc.subjectSouthern blottingen
dc.subjectSpeech disorderen
dc.subjectTestosteroneen
dc.subjectTestosterone blood levelen
dc.subjectWeight gainen
dc.titleDelayed diagnosis of Prader-Willi syndrome in a 24 year-old patienten
dc.typeinfo:eu-repo/semantics/article
dc.description.volume11
dc.description.startingpage50
dc.description.endingpage53
dc.author.facultyΙατρική Σχολή / Medical School
dc.author.departmentΙατρική Σχολή / Medical School
dc.type.uhtypeArticleen
dc.contributor.orcidWozniak, Greta [0000-0002-8939-0927]
dc.contributor.orcidSaridi, Maria [0000-0002-9008-824X]
dc.contributor.orcidKyriazis, Ioannis [0000-0001-9521-3620]
dc.gnosis.orcid0000-0002-8939-0927
dc.gnosis.orcid0000-0002-9008-824X
dc.gnosis.orcid0000-0001-9521-3620


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