Abstract: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.
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