vitamin D-dependent rickets type 2B

A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.

Signs and symptoms

• Delayed epiphyseal ossification
• Tibial bowing
• Sparse bone trabeculae
• Bulging epiphyses
• Femoral bowing
• Genu varum
• Metaphyseal irregularity
• Elevated circulating alkaline phosphatase concentration
• Knee pain
• Fibular bowing