Skeletal deformities of acardius anceps: the gross and imaging features.

ABSTRACT

A morphology based imaging review is presented of the characteristic skeletal deformities associated with acardius anceps in three acardiac twins. These fetuses demonstrated poorly developed skulls, limb reduction defects, and phocomelia of the upper limbs, as well as narrow thoracic cages with or without the complete development of ribs, clavicles, scapulae, and cervical, thoracic, or lumbar vertebrae. However, their lower limbs and pelvic girdles were almost normal. The authors conclude that skeletal development is likely to be jeopardized in the area adjacent to the heart and in the cephalic portion of the body in fetuses with acardius anceps, and suggest vascular deficiency and hypoperfusion as pathogenetic mechanisms in this type of skeletal deformity.