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Hereditary Partial Agenesis of Corpus CallosumBiochemical and Pathological Studies
JOHN H. MENKES, MD;
MICHAEL PHILIPPART, MD;
DAVID B. CLARK, MD
Arch Neurol. 1964;11(2):198-208.
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While sporadically appearing agenesis of the corpus callosum is a relatively common entity, a genetic form of this condition has, to our knowledge, not been known to occur in man. We, therefore, wish to describe a family in whom this anomaly was transmitted in a sex-linked, recessive manner, affecting five male infants. In each instance, the disease manifested itself by seizures commencing within a few hours of birth and by severe developmental retardation. At the time of writing, three of the patients have succumbed. Neuropathological and neurochemical findings on one are herewith presented.
Report of Cases
One patient, III-13, was examined personally; data regarding the four others were obtained from medical records and family interviews.
Case 1 (Index Case, III-13).—This was a white male, born March 9, 1961. Pregnancy and delivery were completely normal. Birth weight was 8 lb 5 oz (3.7 kg). At 60 hours of age, the infant
. . . [Full Text PDF of this Article]
Author Affiliations
BALTIMORE
Footnotes
Submitted for publication Feb 24, 1964; accepted April 24.
Associate Professor of Pediatrics, Johns Hopkins University (Dr. Menkes), Fellow of the Belgian American Educational Foundation (Dr. Philippart), and Associate Professor of Pediatrics and Neurological Medicine, Johns Hopkins Hospital (Dr. Clark).
Dr. Menkes is a Joseph P. Kennedy, Jr. Memorial Foundation Senior Research Scholar in Mental Retardation.
Supported by grants NB-03145 and 5 Tl NB5359 of the National Institutes of Health, United States Public Health Service.
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