calvarial doughnut lesions with bone fragility

An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.

Signs and symptoms

• Carious teeth
• Scoliosis
• Thickened calvaria
• Elevated circulating alkaline phosphatase concentration
• Osteoporosis
• Osteopenia
• Recurrent fractures
• Severe short stature
• Femoral bowing
• Motor delay