Cerebral gigantism and primary hypothyroidism: pleiotropy or incidental concurrence

Am J Med Genet. 1978;2(2):201-5. doi: 10.1002/ajmg.1320020211.

Abstract

An 8.5-month-old baby girl had cerebral gigantism and primary hypothyroidism with generalized large muscles (the Kocher-Debré-Semelaigne syndrome). The significance of this association remains to be determined.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cephalometry
  • Female
  • Gigantism / complications
  • Gigantism / genetics*
  • Humans
  • Hypothyroidism / complications
  • Hypothyroidism / genetics*
  • Infant
  • Phenotype
  • Syndrome