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A case of McCune–Albright syndrome mimicking Paget’s disease of bone

McCune–Albright syndrome is a genetic disorder characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots. The main defect is a missense mutation in the GNAS1 gene, which results in the constitutive activation of the α-subunit of the Gs protein leading to overproduction of cAMP. 4 Clinical presentation is variable due to the mosaic pattern of involvement of the tissues. 2 Herein, we present a case of McCune–Albright syndrome (MAS) displaying the radiologic and biochemical features of Paget’s disease of bone. A 24-year-old woman was referred to our hospital due to skeletal deformities and facial dysmorphism. Her history included regular menses beginning at the age of 5 months, and bone deformities becoming evident at the age of about 5 years. Recently, she had been operated on due to a maxillary tumor; its pathological assessment yielded a diagnosis of fibrous dysplasia. On physical examination she was measured to be 90 cm in height. Facial asymmetry with depression of the left maxillary area was noted. She had extreme kyphoscoliosis and her right leg (tibia) had a bowing deformity. Routine blood chemistry showed a calcium level of 9.3 mg/dL, a phosphorus level in the low-normal range (2.9 mg/dL, normal 2.7–4.5), and http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Bone Elsevier
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