Fig. 7

a Photograph of the full-term fetus of case 4. b Three-dimensional reconstructed skeleton based on the CT data. Although there was severely diminished bone calcification, CT images visualised small pelvic bones, partial absence of the sacral bone and a thoracolumbar convex shaped curvature. The scapulae and clavicles were normally developed with absence of the humeral, ulnar and radial bones including the hands. In addition, the femora, tibial and fibular bones including the feet were absent. c Sagittal T1-weighted MR image showed an Arnold-Chiari malformation (green arrow) and distorted vertebral column (turquoise arrow). d Coronal T1-weighted MR image showed a severe diaphragmatic hernia (green arrow) which deviated the heart completely to the right lateral thoracic wall. The left pleural cavity was almost entirely occupied by the liver, stomach, spleen and left adrenal gland, the left lung was merely noticeable. Moreover, a distortion of the left ribs was seen (turquoise arrow)