Evidence for autosomal recessive inheritance in cerebral gigantism

Abstract

Summary. Three cases of cerebral gigantism, two sibs and their double first cousin, are describedina largeinbred family from Israel. Two of the three were observed and diagnosed at birth and two were followed for two years. They all presented the signs and symptoms considered typical ofthis syndrome, as well as some ofthe less frequent findings. Generalized oedema and flexion contractures of the feet were observed in two of the three 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.

Gigantismo Cerebral

“…4 Se ha citado tambien la ocurrencia del si'ndrome en 12 publico el caso de dos medio hermanos y un primo en segundo grado en una familia consangumea. Todos los pacientes tenian hipotom'a, y dos edema generalizado y contracturas en flexion de los pies, hallazgos no descritos previamente en el sindrome.…”

Urological anomaly in an infant with Sotos’ syndrome: report of a case

“…[2][3][4][5][6][7][8] . De origem ainda desconhecida, diferentes estudos sugerem a origem genética, com transmissão autossômica dominante ou até recessiva [9][10][11][12] .…”

Letter: Diagnositc problems in cerebral gigantism.

“…Cerebral gigantism Sir, I have read with interest the recent publication by Nevo and her colleagues (Nevo et al, 1974) which provides evidence for autosomal recessive inheritance of cerebral gigantism in an inbred family from Israel. The authors note that, while the possibility of genetic determination has been discussed by several authors, the evidence before their publication was insufficient and inconclusive.…”

“…In their publication, Nevo et al (1974) conservatively conclude that: 'The family pattern leaves little doubt regarding the role of genetics in this particular case'-namely, their family. Our observation in conjunction with theirs provides a reasonable basis for concluding that the autosomal recessive pattern of inheritance is probably not restricted to their kindred and may be of more general occurrence.…”