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Departments of Pediatrics, Neurology, and Radiology, The University of Chicago, Chicago, IL.
We report a family with nodular subependymal masses of heterotopic gray matter occurring in six members in four generations. Only female members of the family are affected, and there is a high rate of spontaneous abortion, consistent with X-linked dominant inheritance, and lack of viability in affected males. Both in this family and in sporadic cases of subependymal heterotopias there is a high frequency of convulsive disorders, suggesting that epilepsy may be the major clinical manifestation of this developmental defect.
Address correspondence and reprint requests to Dr. Peter R. Huttenlocher, University of Chicago, Department of Pediatrics, 5841 South Maryland Avenue, MC/3055, Chicago, IL 60637.
Supported by funds from the Illinois Tuberous Sclerosis Association.
Received May 4, 1993. Accepted for publication in final form July 8, 1993.
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