McCune-Albright Syndrome: A Case Report and Literature Review

Mobini, Moein and Vakili, Rahim and Vakili, Saba (2014) McCune-Albright Syndrome: A Case Report and Literature Review. International Journal of Pediatrics, 2 (2.2). pp. 153-156.

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Abstract

McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentation and X-ray finding were strongly diagnostic for MAS, Patients with McCune-Albright syndrome reach the adult age with a significant burden of the disease that continuously reduces their quality of life. Skeletal deformities, fractures, hyperthyroidism, and hyperestrogenism are just few of the many challenges in the management of these patients. These disorders with close observation and early detection can be controlled.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 30 Sep 2017 11:11
Last Modified: 30 Sep 2017 11:11
URI: http://eprints.mums.ac.ir/id/eprint/6938

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