Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome

Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bon e fibrous dysplasia and intramuscular myxomas, We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had cafe-au-la it spots and multinodular goiter suggestive of McCuneAlbright syndrome. We review the 37 previously reported cases with Mazabraud syndrome and discuss the 6/37 patients with criteria of Mazabraud and McCune-Albright syndromes . Based on the clinical overlap between the two syndromes, we tested the GN ASI gene in blood leukocytes and skin fibroblasts of Patient 1, but found n o evidence of an activating mutation in the GNASI gene. (C) 2001 Wiley-Liss , Inc.