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Table 1 Hajdu-Cheney syndrome clinical features

From: Hajdu-Cheney syndrome: a review

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