Fraser syndrome with bladder pseudoexstrophy.
We report a one year old girl with Fraser Syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including clitorimegaly, left renal agenesis and a unique urinary bladder exstrophy variant (psuedoexstrophy) with intact bladder which herniates through the lower abdominal wall defect.
Daia
J A
JA
Pediatric Division, Department of Urology, King Faisal Specialist Hospital & Research Centre, MBC 83, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001746:Bladder Exstrophy / Q000235:genetics / Q000473:pathology*; D002987:Clitoris / Q000002:abnormalities*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology*; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D007829:Laryngostenosis / Q000235:genetics / Q000473:pathology*; D012529:Saudi Arabia; D013576:Syndactyly / Q000235:genetics / Q000473:pathology*; D013577:Syndrome