The patient is a very pleasant 35-year-old woman who works as a cashier. She has pain in the top of the right proximal femur. The pain is exacerbated by walking and prolonged standing. It is relieved by rest.

The patient has a history of a syndrome affecting both her endocrine system and skeletal development. She has short stature. She is now 4-foot 3 inches in height.

The patient had a previous fracture of the left proximal femur which eventually required hip replacement. She gets infusions of pamidronate once every two months.

On examination the patient has short stature as noted above. Her right hip is carried higher than the left. The right hip has excellent full free range of motion. Pressure on the right trochanter and the right femur causes pain. There is a large café au lait spot over the right side of the neck and over the back. It has a regular border.

The patient has x-rays made. There are multiple lesions in multiple bones. There are multiple lesions in the right femur. Distal to about the junction of the middle and distal third of the femur, the bone is more normal.

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What is the diagnosis?

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