Dominant inheritance of cerebral gigantism.
Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D011378:Prognathism / Q000235:genetics; D012886:Skull