Clinical Presentation

A stillborn dysmorphic infant.

(A) Frontal “babygram” demonstrates extremely short ribs with associated pulmonary hypoplasia, platyspondyly (flat vertebral bodies, arrows), and micromelic shortening of all the long bones, with “telephone receiver” femora (arrowheads). (B) Lateral view demonstrates frontal bossing (arrow) and better shows the extreme flattening of the vertebral bodies and limb shortening.

Differential Diagnosis

• Thanatophoric dysplasia: