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Familial megalencephaly or hydrocephalus?

Department of Child Psychiatry (Dr. Schreier), the Department of Pediatrics (Dr. Rapin and Miss Davis), and the Saul R. Korey Department of Neurology (Dr. Rapin), Albert Einstein College of Medicine, Bronx, New York.

Genetic counselors for families with macrocephalic members should be aware that the prognosis for future intellectual function is not always poor. In three generations of a family with macrocephaly, 10 of the 12 macrocephalic members had average or better intelligence. The other two both had presumably arrested hydrocephalus, developmental retardation, and hypotonia. One of the hydrocephalic children also showed autisticlike behavior. Another family member with a normal head size had hypotonia and congenital adrenal hyperplasia of the salt-losing type.

Dr. Schreier's present address is Department of Psychiatry, Harvard Medical School-The Children's Hospital Medical Center, 300 Longwood Avenue, Boston, MA 02115.

This work was supported in part by NlNDS grants 2 TI-NS 5325 and NS 3356 and by project 241 from the National Child Health Service Training and Study Project of the Department of Health, Education and Welfare.

Received for publication June 19, 1973.