American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Oct 2009
Review Case ReportsTethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature.
Wolf-Hirschhorn syndrome (4p-) is a rare disorder with characteristic physical findings. Neuroimaging findings are relatively scarce. We performed a literature search and found 22 reports of neuroimaging findings. ⋯ These cysts eventually fuse with the frontal horns during late infancy with enlargement of the frontal horns. Absence of other causes for periventricular cyst formation, such as perinatal distress, prematurity, or cytomegalovirus infection, appears to strengthen the association. With further studies, neuroimaging findings may eventually assist in the diagnosis of patients with Wolf-Hirschhorn syndrome.