PEDIATRICS Vol. 66 No. 2 August 1980, pp. 277-281
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The Miller-Dieker Syndrome

Kenneth Lyons Jones MD1, Enid F. Gilbert MD1, Elizabeth G. Kaveggia MD1, and John M. Opitz MD1

1 Department of Pediatrics, University of California San Diego, School of Medicine, La Jolla; Departments of Pathology and Pediatrics and Wisconsin Clinical Genetics Center of the Department of Medical Genetics, University of Wisconsin Center for Health Sciences and Medical School, Madison; and Central Wisconsin Center for the Developmentally Disabled, Madison

Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been evaluated, bringing to ten the number of patients reported with that disorder. We wish to emphasize that lissencephaly is etiologically non-specific and represents only one feature in this malformation syndrome. Other features, such as the craniofacial, neurologic, and growth abnormalities, are more helpful in diagnosing this autosomal recessive disorder.

Submitted on October 8, 1979
Accepted on November 19, 1979