BILATERAL NONCOMMUNICATING PARAURETHRAL MEATUS IN PRADER-WILLI-SYNDROME

Prader-Willi syndrome (PWS) is a complex multisystemic congenital diso rder due to an interstitial deletion of chromosome 15q11-13 or to mate rnal uniparental disomy. Molecular generic testing is complex, and oft en requires DNA from both parents, which is not always available. An a ccurate medical history and the presenting clinical signs are frequent ly the only tools for the clinical diagnosis of this syndrome, therefo re it is important to have complete and accurate criteria. The presenc e of a bilateral non-communicating paraurethral meatus in a 9-year-old female patient affected by PWS, previously unreported in the literatu re, should induce clinicians to look for this sign when examining such patients.