Evidence for autosomal recessive inheritance in cerebral gigantism

Abstract

Three cases of cerebral gigantism, 2 sibs and their double first cousin, are described in a large inbred family from Israel. Two of the 3 were observed and diagnosed at birth and 2 were followed for two years. They all presented the signs and symptoms considered typical of this syndrome, as well as some of the less frequent findings. Generalized edema and flexion contractures of the feet were observed in 2 of the 3 at birth. This has not hitherto been reported in cases of cerebral gigantism, of whom only a few have been observed and diagnosed at birth. Autosomal recessive inheritance is clearly implied in this family.