Znaczenie kliniczne wczesnej diagnostyki zespołu Pradera-Williego - historia trzech chorych

Prader-Willi syndrome (PWS) is one of the dysmorphic syndromes presenting with a complex genetic etiology and variable clinical features. Most of PWS cases originate de novo as a deletion in paternal 15 chromosome (75% of cases). Clinical symptoms of Prader-Willi syndrome involve dysmorphic features of face, such as narrow temporal distance, almond-shaped eyes, thin upper lip, downturned mouth as well as small hands and foots, short stature, hypotonia, hypogonadism, hyperphagia and obesity, mental retardation, developmental delay and behavioral problems. We report three cases of children with the same 15q deletion and various clinical follow-up of disease: 1) very early diagnosed patient 1 and 2) very late diagnosed patient 2 and 3. Additionally, we present a review of clinical symptoms of Prader-Willi syndrome.