Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger

Am J Med Genet. 1998 Aug 27;79(1):27-9. doi: 10.1002/(sici)1096-8628(19980827)79:1<27::aid-ajmg7>;2-f.


A 14-year-old girl with Robinow syndrome was admitted with severe abdominal pain that had recurred periodically during the last 6 months. She had been followed by us since age 2 months and she had not experienced menarche yet; hematocolpos related to vaginal atresia was diagnosed. She underwent vaginoplasty with cervical construction. Genital system abnormalities are common in Robinow syndrome, but this kind of malformation has not been reported previously.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / physiopathology*
  • Adolescent
  • Female
  • Fingers
  • Hand Deformities, Congenital / physiopathology*
  • Hematocolpos / physiopathology*
  • Humans
  • Syndrome
  • Vagina / abnormalities*