currarino syndrome- case report
DESCRIPTION
Currarino Syndrome- Case Report. Attila M Vastyan, Andrew B Pinter, Zsolt Oberritter, Zsolt Juhasz, Peter Vajda. University of Pecs/Hungary, Faculty of Medicine , Department of Paediatrics , Surgical Unit. 1981- G.Currarino - Currarino triad. hemisacrum anorectal malformation - PowerPoint PPT PresentationTRANSCRIPT
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Currarino Syndrome- Case Report
University of Pecs/Hungary, Faculty of Medicine, Department of Paediatrics, Surgical Unit
Attila M Vastyan, Andrew B Pinter, Zsolt Oberritter, Zsolt Juhasz, Peter Vajda
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1981- G.Currarino - Currarino triad
hemisacrumanorectal malformationpresacral mass
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hemisacrumcaudal regression syndrome
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Anorectal malformationrectourethral fistularectovestibular fistularectocloacal fistularectoperineal fistula (anorectal stenosis)
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Presacral massanterior meningoceleteratomadermoid cystrectal duplicationother
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Associated anomaliesneural tube defects (tethered cord)cardiac anomaliesurologic involvementgynecologic malformationsHirschsprung, dysganglionosis
Currarino syndrome
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Geneticsautosomal dominant inheritancemutations or deletions in the coding sequence of HLXB9 genephenotype variability
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Case report 1D.B (03/10/2001),girlconstipation since birth, biopsy - no Hirschsprung, but anal stenosis Y-V plasty for anal stenosis at 9 months, no significant improvementlaxatives, suppositories and enemas
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Case report 2bronchoscopy (2003)- stenosis left sidechange in walking ("limping")- 2004orthopedic & neurologic examination, x-ray, CT,MR
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Case report 3cardiology- no abnormality detected MCU - "lazy bladder", no VURAFP, beta HCG -norm.anal and uromanometryrectal digital examinationOperation
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