A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

Am J Med Genet. 1984 Jan;17(1):323-32. doi: 10.1002/ajmg.1320170125.


We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Basal Ganglia Diseases / congenital*
  • Child, Preschool
  • Deafness / congenital*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics*
  • Ophthalmoplegia / congenital*
  • Pedigree
  • Syndrome
  • X Chromosome*