Imaging description

This 37-week gestational newborn infant was noted to be short statured and disproportionate. A midline cleft palate was identified. The hands seemed to be proportionately large compared to the other arm segments.

Radiographically, the thorax was quite small and the ribs were moderately shortened. The spine revealed lack of vertebral ossification in the cervical and lower lumbar and sacral regions (Fig. 93.1). In the pelvis the acetabular roofs were flat, the sacrosciatic notches were widened, and pubic bone ossification was absent. The lateral view of the spine, thorax, and skull base revealed ovoid, hypoplastic vertebral bodies and a large occipital ossification defect at the skull base. A film of the lower extremities revealed no epiphyseal ossification at the knees (as expected) and no ossification centers for talus and calcaneus. The radiograph of the hand and lower arm showed normal for age hand bone ossification but suggested that the hand was at least as long as the meso-bones.