Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation

The urofacial, or Ochoa, syndrome is characterised by congenital urinary bladder dysfunction together with an abnormal grimace upon smiling, laughing and crying. It can present as fetal megacystis. Postnatal features include urinary incontinence and incomplete bladder emptying due to simultaneous de...

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Veröffentlicht in:	Pediatric nephrology (Berlin, West) West), 2014-04, Vol.29 (4), p.513-518
Hauptverfasser:	Woolf, Adrian S., Stuart, Helen M., Roberts, Neil A., McKenzie, Edward A., Hilton, Emma N., Newman, William G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abdomen Bladder Chronic kidney failure Congenital diseases Facies Genetic aspects Humans Kidney diseases Kinases Medicine Medicine & Public Health Mutation Nephrology Pediatrics Proteins Review Risk factors Urinary Bladder - abnormalities Urinary Bladder - innervation Urinary incontinence Urogenital system Urologic Diseases - congenital Urologic Diseases - genetics Urology
Online-Zugang:	Volltext
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