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KMID : 0880420140150040534
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Korean Journal of Radiology
2014 Volume.15 No. 4 p.534 ~ p.537
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Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly
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Ozgur Anil
Cabuk Gonca
Arpaci Rabia
Baz Kiymet
Katar Demet
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Abstract
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Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.
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KEYWORD
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Basaloid follicular hamartoma, Happle-Tinschert syndrome, Hemimegalencephaly, Polymicrogyria
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