Prenatal diagnosis of chondrodysplasia punctata by sonography.

Abstract:

: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.

journal_name

Obstet Gynecol

authors

Duff P,Harlass FE,Milligan DA

subject

Has Abstract

pub_date

1990-09-01 00:00:00

pages

497-500

issue

3 Pt 2

eissn

0029-7844

issn

1873-233X

journal_volume

76

pub_type

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