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Official websites use. Share sensitive information only on official, secure websites. Address for correspondence Hala T. Prader-Willi syndrome PWS is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15qq13 region or uniparental disomy of chromosome The etiologic heterogeneity of PWS makes it very difficult to establish uniform diagnostic methods which would result in the detection of most affected individuals.
The objective was to report the clinical criteria and oro-dental features in PWS, to report the effect of diet and laser acupuncture on PWS and highlighted an easy effective method for early diagnosis of individuals with PWS.
The study included seventeen cytogenetically proven individuals with Prader-Willi syndrome. These patients were subjected to meticulous history taking, clinical examination including oro-dental examination, bone densitometry and neuropsychiatric evaluation. They received laser acupuncture sessions in addition to nutrition intervention. All cases had characteristic facies, hypotonia and various psychosocial difficulties. Other criteria of PWS were present in different percentages.
Karyotyping revealed deletion 15qq13 in 6 patients, and fluorescence in situ hybridization FISH revealed a microdeletion in 15q11βq13 in the other 11 patients. To our knowledge, partial ankyloglossia, median grooved tongue and hypodontia have not previously been reported in PWS patients. Laser acupuncture sessions and diet were effective in weight decline for PWS patients. Our study emphasizes the importance of early detection of PWS, laser sessions, diet restriction and oro-dental examination in the follow up of patients with Prader Willi syndrome.
Prader-Willi syndrome PWS; MIM is a genetic multisystem disorder, which is caused by the absence of paternally expressed critical region within chromosome 15qq The first is from birth till around 2 years of age.