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McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the G s heterotrimeric G protein.
The disorder bears the name of Fuller Albright, who characterized it in 1942. [12] He was also responsible for naming it "Sebright bantam syndrome," after the Sebright bantam chicken, which demonstrates an analogous hormone insensitivity. Much less commonly, the term Martin-Albright syndrome is used, this refers to Eric Martin. [13]
McCune–Albright syndrome, a rare genetic endocrine disease affecting the bones and pigmentation of the skin, was described independently by both McCune and Dr. Fuller Albright in 1937. McCune wrote more than thirty articles for medical publications and contributed to the Childcraft encyclopedia (1946 and 1954) and Encyclopedia Americana (1955).
McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4] When polyostotic fibrous dysplasia manifests in the long bones, limping results; when it manifests in the face, asymmetric growth of the face can result. [3] One treatment that has been used is bisphosphonates. [5]
The following is a list of genetic disorders and if known, ... McCune–Albright syndrome: 20 q13.2–13.3: 1:100,000-1,000,000 McLeod syndrome: XK (X) 0.5-1:100,000
Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. [23]
Treatments to reduce symptoms, genetic counseling Pseudopseudohypoparathyroidism ( PPHP ) is an inherited disorder, [ 1 ] named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy , although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction.
Albright hereditary osteodystrophy; pseudohypoparathyroidism type Ia and Ib; pseudopseudohypoparathyroidism; McCune–Albright syndrome; Myxoma [14] Mutations in this gene also result in progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [15]