Bilateral non-communicating paraurethral meatus in Prader-Willi syndrome.
Prader-Willi syndrome (PWS) is a complex multisystemic congenital disorder due to an interstitial deletion of chromosome 15q11-13 or to maternal uniparental disomy. Molecular genetic testing is complex, and often requires DNA from both parents, which is not always available. An accurate medical history and presenting clinical signs are frequently the only tools for the clinical diagnosis of this syndrome, therefore it is important to have complete and accurate criteria. The presence of a bilateral non-communicating paraurethral meatus in a 9-year-old female patient affected by PWS, previously unreported in the literature, should induce clinicians to look for this sign when examining such patients.
Cento
R M
RM
Department of Gynecology, Oasi Institute, Troina, Italy.
Alberti
A
A
Brancati
G
G
Ragusa
L
L
Pettinato
R
R
Rossodivita
A
A
Colabucci
F
F
Lanzone
A
A
D002648:Child; D005260:Female; D006801:Humans; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D014521:Urethra / Q000002:abnormalities*