Microphthalmia--prenatal ultrasonic diagnosis: a case report.
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.
D000015:Abnormalities, Multiple; D000328:Adult; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D009300:Nasal Septum / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography