Fig. 2

Computer tomography (CT) of skull and body. a Computer tomography scan revealed a characteristically shortened nasal region, a bulged forehead, brachygnathia superior and caudodorsally located eye sockets. b In the dorsoventral view of the body a significant shortening of the vertebral column was shown. The first ten thoracic vertebrae were fused, the spinous processes were not developed over the entire length and transverse processes of the lumbar spine were only rudimentary. The ribs also showed a shortening, an irregular shape, a variable distance from each other and partial fusion. Severe malformations were also detected in the limbs. Wide distances in-between long bones in the CT scan were a result of impaired mineralization of the epiphyses. In addition, the pelvis and scapula appear small and burly