Table 1 Hajdu-Cheney syndrome clinical features
Craniofacial features | Skeletal features | Other features |
|---|---|---|
• Facial dysmorphism, micrognathism | • Acroosteolysis, fibular deformities, fractures, joint hyperlaxity | • Short stature, developmental delay |
• Open sutures, wormian bones | • Short and broad digits | • Polycystic kidneys |
• Platybasia and basilar invagination | • Osteoporosis with fractures | • Neurologic symptoms, hearing loss |
• Periodontal disease, tooth abnormalities and loss | • Vertebral deformities, scoliosis | • Congenital heart/vessel defect |