| Bilateral non-communicating paraurethral meatus in Prader-Willi syndrome. | |
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MedLine Citation:
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PMID: 9174855 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R M Cento; A Alberti; G Brancati; L Ragusa; R Pettinato; A Rossodivita; F Colabucci; A Lanzone |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology Volume: 11 ISSN: 0951-3590 ISO Abbreviation: Gynecol. Endocrinol. Publication Date: 1997 Apr |
Date Detail:
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Created Date: 1997-06-27 Completed Date: 1997-06-27 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8807913 Medline TA: Gynecol Endocrinol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 135-7 Citation Subset: IM |
Affiliation:
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Department of Gynecology, Oasi Institute, Troina, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Female Humans Prader-Willi Syndrome / diagnosis*, genetics, pathology Urethra / abnormalities* |
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