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KMID : 1103720090600010057
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Journal of the Korean Society of Radiology
2009 Volume.60 No. 1 p.57 ~ p.60
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A Case Report of Pfeiffer Syndrome with Spinal Anomaly
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Shin Chung-Hee
Yi Boem-Ha
Hong Hyun-Sook
Lee Hae-Kyung
Park Seong-Jin
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Abstract
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Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull as well as skeletal deformities, including broad thumbs, great toes, and mid-face anomalies. In our case study, the spinal deformity was combined with type II Pfeiffer syndrome. We describe the radiologic findings of the vertebral and spinal cord anomalies, with emphasis on the magnetic resonance imaging (MRI) findings, and a review of the literature on spinal deformities associated with Pfeiffer syndrome.
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KEYWORD
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Congenital abnormalities, Magnetic resonance (MR), Acrocephalosyndactyly
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