• Joel Verbrugge, Arabinda Kumar Choudhary, and Roger Ladda.
• Department of Radiology, Penn State University, Hershey Medical Center, Hershey, Pennsylvania 17033, USA. jhverbrugge@hotmail.com
• Am. J. Med. Genet. A. 2009 Oct 1;149A(10):2280-4.

AbstractWolf-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. We present findings in our two cases, each with the previously unreported finding of a tethered cord. The most common abnormalities were of the corpus callosum, occurring in 71% of all cases. There appears to be a high association in the syndrome between corpus callosal abnormalities and periventricular cysts formation in the first year of life. 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.

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