“Whoa! It’s like Spotify but for academic articles.”

Instant Access to Thousands of Journals for just $40/month

Try 2 weeks free now

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
Loading next page...

You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy unlimited access and
personalized recommendations from
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $40/month

Try 2 weeks free now

Explore the DeepDyve Library

How DeepDyve Works

Spend time researching, not time worrying you’re buying articles that might not be useful.

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from Springer, Elsevier, Nature, IEEE, Wiley-Blackwell and more.

All the latest content is available, no embargo periods.

See the journals in your area

Simple and Affordable Pricing

14-day free trial. Cancel anytime, with a 30-day money-back guarantee.

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Best Deal — 25% off

Annual Plan

  • All the features of the Professional Plan, but for 25% off!
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.

billed annually