Microphthalmia--prenatal ultrasonic diagnosis: a case report

Prenat Diagn. May-Jun 1985;5(3):205-7. doi: 10.1002/pd.1970050307.


Prenatal real-time ultrasonographic diagnosis of microphthalmia is presented. Diagnosis was made at 18 weeks' gestation in a fetus of a patient with a previous infant affected with the syndrome of cryptophthalmia with absence of septum nasi and ambiguous genitalia (Fraser syndrome). Recognition of microphthalmia as a part of Fraser syndrome and the easy visualization of fetal facial bones and orbits in the second trimester made the diagnosis possible.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adult
  • Eyelids / abnormalities
  • Female
  • Genitalia / abnormalities
  • Humans
  • Microphthalmos / diagnosis*
  • Microphthalmos / genetics
  • Nasal Septum / abnormalities
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome
  • Ultrasonography*