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Sotos' syndrome

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A syndrome of excessive growth during the first 4 to 5 years of life, with cerebral gigantism and generalised large muscles in childhood, acromegalic features, and a nonprogressive cerebral disorder with nonprogressive mild mental retardation and defective coordination. After early childhood growth seems to approach normal, remaining, however, two standard deviations above means for chronological age. Birth weight and length greater than normal. Other principal features are dolicocephaly, macrocrania, hypertelorism, antimongoloid palpebral slant, high-arched palate, frontal bossing, mandibular prognathism, and precocious dentition. Occasionally, obesity, convulsions, abnormal dermatoglyphic pattern. Both sexes. Most cases are sporadic but some are transmitted as an autosomal dominant trait.

Sotos and collaborators in 1964 first defined this syndrome, which was already well known to paediatricians.


  • J. F. Sotos, P. R. Dodge, D. Muirhead, J. D. Crawford, N. B. Talbot:
    Cerebral gigantism in childhood. A syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder.
    New England Journal of Medicine, Boston, 1964, 271:109-116
  • J. M. Abraham, G. Snograss:
    Sotos syndrome or cerebral gigantism.
    Archives of Disease in Childhood, London, 1969, 44: 203-210
  • S. Nevo et al:
    Evidence for autosomal recessive inheritance in cerebral gigantism.
    Journal of Medical Genetics, London, 1974, 11: 158-165
  • J. F. Sotos et al:
    Cerebral gigantism.
    American Journal of Diseases of Children, Chicago, 1977, 131: 625-627.
  • J. F. Sotos et al:
    Cerebral gigantism and primary hypothyroidism: Pleiotrophy or incidental concurrence.
    American Journal of Medical Genetics, New York, 1978, 2:201-205.

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