Prenatal diagnosis of chondrodysplasia punctata by sonography
Duff, P.; Harlass, F.E.; Milligan, D.A.
Obstetrics and Gynecology 76(3 Part 2): 497-500
1990
ISSN/ISBN: 0029-7844 PMID: 2199870 Document Number: 350577
The rhizomelic form of chondrodysplasia punctata is a lethal autosomal recessive disorder of unknown cause. It is characterized by marked shortening and bowing of the proximal limbs, vertebral column abnormalities, eye and skin defects, severe mental retardation, and recurrent infection. Previously, antenatal diagnosis of this condition was made by radiography. We describe ultrasonographic findings, specifically stippling of the proximal humerus, which permitted us to identify the condition in a fetus at 28 weeks' gestation.