FaCD Online Syndrome Fact Sheet

Last updated: 28 May 2009

Name: Mazabraud syndrome

Mode of Inheritance: spor

Genes

GNAS1, mapped to 20q13.2

Tumor features

intramuscular myxoma
osteosarcoma

Non-tumor features

bone, fibrous dysplasia & sclerosis of

Comment

Mazabraud syndrome is a rare sporadic disorder, characterized by bone fibrous dysplasia and intramuscular myxomas. There is clinical overlap with McCune-Albright syndrome.[1-3] Osteosarcoma has been reported[4,5].In two patients with Mazabraud's syndrome, R201H mutations in the GNAS1 gene were detected in the bone lesions and the soft tissue myxomas[6].

References

[1] Faivre L, Nivelon-Chevallier A, Kottler ML, Robinet C, Khau Van Kien P, Lorcerie B, Munnich A, Maroteaux P, Cormier-Daire V, LeMerrer M. Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. American journal of medical genetics 2001; 99(2):132-6.
[2] Biagini R, Ruggieri P, Boriani S, Picci P. The Mazabraud syndrome: case report and review of the literature. Italian journal of orthopaedics and traumatology 1987; 13(1):105-11.
[3] Blasier RD, Ryan JR, Schaldenbrand MF. Multiple myxomata of soft tissue associated with polyostotic fibrous dysplasia. A case report. Clinical orthopaedics and related research 1986; .
[4] Lopez-Ben R, Pitt MJ, Jaffe KA, Siegal GP. Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome. Skeletal radiology 1999; 28(9):522-6.
[5] Crawford EA, Brooks JS, Ogilvie CM. Osteosarcoma of the proximal part of the radius in Mazabraud syndrome. A case report. J Bone Joint Surg Am. 2009 Apr;91(4):955-60
[6] Idowu BD, Al-Adnani M, O'Donnell P, Yu L, Odell E, Diss T, Gale RE, Flanagan AM. A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology 2007; 50(6):691-704.