As properly diagnosed prenatally:
- hypomineralisation of the skull and facial bones
- agenesis of the thumb bones
- agenesis of the distal phalanges on both hands and feet.
Additional anomalies unseen prenatally:
- agenesis of the ascending ramus of the mandible, hence retrognathism
- cervical platyspondyly
- abnormal acetabular roofs
- right-sided spine on the iliac bone
- many bony callus suggesting past fractures of the long bones.