Trisomy 18 in a 13 year old girl

J Med Genet. 1986 Jun;23(3):256-7. doi: 10.1136/jmg.23.3.256.

Abstract

A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosomes, Human, 16-18*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Kyphosis / genetics*
  • Sclera / abnormalities
  • Trisomy*