Familial megalencephaly or hydrocephalus?

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Abstract
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.

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