Clinical, MR Imaging and MR Spectroscopy Findings in Cohen Syndrome
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We describe a 20-year-old, non-Finnish man with Cohen syndrome (MIM: 216550). Besides the essential clinical and MR imaging findings including non-progressive psychomotor retardation, motor clumsiness, microcephaly, typical facial features, retinochoroidal dystrophy, myopia and thick corpus callosum, he also had infertility, pituitary hyperplasia and low-lying tentorium. No diffusion changes were recorded. MR spectroscopy (40 and 270 ms TE) revealed normal spectra.
2003 ◽
Vol 18
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pp. 255-259
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2009 ◽
Vol 27
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pp. 434-440
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2006 ◽
Vol 33
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pp. 207-208
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2010 ◽
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pp. 359
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2006 ◽
Vol 105
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pp. 132-135
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2012 ◽
Vol 81
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pp. 3491-3495
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1994 ◽
Vol 30
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pp. 421
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