Scopul nostru este sprijinirea şi promovarea cercetării ştiinţifice şi facilitarea comunicării între cercetătorii români din întreaga lume.
Autori: C. Bortun, L. Ardelean, M. Puiu
Editorial: European Journal of Human Genetics, Vol 17 Supp 2, p.140, 2009.
Background. Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by genetic defects in certain regions of chromosome 15q11-13. Commonly associated characteristics of this disorder include hypotonia, obesity, mental retardation, short stature, hypogonadotropic hypogonadism,
small hands and feet, facial dysmorphy, learning and behavioural difficulties, and dental abnormalities (thick viscous saliva). Aim. To describe the oro-dental phenotypic spectrum of patients with PWS. Design. Five PWS patients (5-22 years of age) being followed at the
Emergency Children Hospital L. Turcanu, Timisoara were examined at the dental clinic of the same institution. Medical information collected included all clinical manifestation, body mass index (BMI), level of cognitive functioning, genetic investigations. Oral and radiological evaluations
were performed. Results. All 5 patients had caries experience, dental erosion and salivary flow rates were assessed.
Conclussion. The clinical implications of the dental anomalies, with
genetically controlled patterns are important in establishment of early
diagnosis and appropriate orthodontic care and collaboration between
dentist, geneticist and pediatrician ensure a formula of a correct diagnosis
and in giving an adequate therapeutical advice.
Cuvinte cheie: genetica // genetics