An inherited disorder with bone fragility

Case Identification

Case ID Number
Position within the bone
Periosteal reaction
Benign or Malignant

Clinical case information

Case presentation

The patient is a 35-year-old woman who has pain in the top of the right proximal femur. The patient has a history of an inherited syndrome affecting growth and bone development.

Radiological findings:
She had precocious onset of sexual development. On examination the patient has short stature. There is a large café au lait spot over the right side of the neck and over the back. It has a regular border. See the xray images.
Laboratory results:
No contributory findings.
Differential Diagnosis
What is your differential diagnosis?
Treatment Options:
What should be done?
Case Answer
Clinical Case Answer