Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks.
We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.
Gollop
T R
TR
Eigier
A
A
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D003025:Clubfoot / Q000175:diagnosis / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography