Prenatal diagnosis of hypochondroplasia.
Prenatal diagnosis of a fetus at risk for hypochondroplasia, a short limb dwarfism condition similar to achondroplasia, was performed by ultrasound at 22 weeks' gestation. The limb bones were measured and shown to be decreased in length. The pregnancy was terminated. Post abortion X-ray did not show caudal narrowing in the lumbar spine but the pelvis had the features of hypochondroplasia.
D000032:Abortion, Therapeutic; D000130:Achondroplasia / Q000175:diagnosis* / Q000196:embryology; D000328:Adult; D000886:Anthropometry; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography