McCune –Albright Syndrome: Diagnosis and clinical course in eleven patients

McCune –Albright Syndrome (MAS) (OMIM #174800) is a rare and complex genetic disorder. It is characterized by bone lesions that mainly present as polyostotic fibrous dysplasia (PFD), “café-au-lait” spots (CALS), and the autonomous hyperfunction of various endocrine organs; it frequently manifests in females as precocious puberty.1 However, the partial or atypical form of MAS usually presents with only one or two cardinal characteristics given that the distribution of GNAS gene (locus 20q13.2, #139320) mutations are often restricted to affected tissues.

Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Jia-Woei Hou Tags: Short Communication Source Type: research