Searchable abstracts of presentations at key conferences in endocrinology

ea0020p318 | Clinical case reports and clinical reports | ECE2009

Prader-Willi syndrome: case report

Rosso Denise , Resende Arnaud , Valle Alisson , Neto Fauzi , Zanini Ana Paula , Arbex Alberto

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct neurogenetic disorders involving the imprinting mechanism at 15q11–13 region. We report on 4 years and 9 months old boy who was referred to our laboratory in order to investigate a clinical bilateral cryptorquidy. The patient was born to non-consanguineous and healthy biological parents. Informed consent for publication was obtained from the parents. After normal pregnancy, the patient was delivered by ca...