Prader Willi syndrome clinical signs and phenotypic features at Lithuanian health science university hospital

Abstract

Backround: Prader Willi syndrome (PWS) - a rare genetic disease that manifestates in 1:10000 or 1:25000 births. The aim of the study was to evaluate when first starting to emerge Prader Willi syndrome symptoms and how they are distributed according to sex. Methods: In this retrospective analysis data were collected from 29 outpatients, who had clinical symptoms of PWS. The patients weight and height were evaluated at birth and the first visit to the doctor at the time (weight and height procentile evaluated), as well as the face, extremities, breast development and other changes. Results: All patients were applied for the obesity to the doctor, when average age was 3.23 years. Comparison of average age between boys and girls showed no statistically significant difference .The almond -shaped eyes were 33.3% of girls and 47.4% boys. Thin upper lips 33.3% of girls and 36.6% boys. Short limbs were 50.0% of girls and 57.9% boys. Tapering fingers 22.2% of girls and 26.3% boys. Sandal gap 11.1% of girls and 15.8% boys. A comparison of the other symptoms (sucking reflex absence, epilepsy, stigma) dependence on sex, a statistically significant relation has not been established. These symptoms occurred in 66.7% girls and 47.4% boys. Conclusions: Average ages of patients was 3.23 years, when they first applied for the obesity to the doctor. Weight on first visit to the doctor does not depend on birth weight.Statistically significant association between all clinical symptoms and sex has not been established.