Ullrich-Turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major

Am J Med Genet. 1992 Sep 1;44(1):11-2. doi: 10.1002/ajmg.1320440104.

Abstract

A 16-year-old girl with mosaic Ullrich-Turner syndrome [45,X/46,X,i(Xq)] had agenesis of the left breast, nipple, pectoralis major, and agenesis of hair follicles of the left axilla. This appears to be the first description of this anomaly in the Ullrich-Turner syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Breast / abnormalities*
  • Child
  • Female
  • Humans
  • Mosaicism*
  • Nipples / abnormalities*
  • Poland Syndrome / genetics*
  • Syndrome