Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence?

Am J Med Genet. 1988 Apr;29(4):783-92. doi: 10.1002/ajmg.1320290408.

Abstract

We report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypotonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Female
  • Genes, Dominant
  • Growth Disorders / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Male
  • Muscle Hypotonia / congenital*
  • Nystagmus, Pathologic / genetics*
  • Strabismus / genetics*