Prenatal diagnosis of thanatophoric dysplasia at 24 weeks.
We report making the prenatal diagnosis of thanatophoric dysplasia at 24 weeks gestation. The ultrasound examination showed short limbs. By in utero radiological study, we could see the typical changes of this skeletal dysplasia. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia.
D000328:Adult; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D014463:Ultrasonography