New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death

Am J Med Genet. 1993 Mar 1;45(5):654-8. doi: 10.1002/ajmg.1320450527.


A family with an X-linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood. We conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Epilepsy / genetics
  • Female
  • Genetic Linkage
  • Hearing Disorders / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Joint Diseases / genetics
  • Male
  • Muscle Spasticity / genetics
  • Pedigree
  • Syndrome
  • Vision Disorders / genetics*
  • X Chromosome*