Abstract
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.
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology*
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Bladder Exstrophy / genetics
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Bladder Exstrophy / pathology*
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Clitoris / abnormalities*
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Consanguinity
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Craniofacial Abnormalities / genetics
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Craniofacial Abnormalities / pathology*
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Eye Abnormalities / genetics
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Eye Abnormalities / pathology*
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Female
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Humans
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Infant
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Kidney / abnormalities*
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Laryngostenosis / genetics
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Laryngostenosis / pathology*
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Saudi Arabia
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Syndactyly / genetics
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Syndactyly / pathology*
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Syndrome