Faivre L, Nivelon-Chevallier A, Kottler M L, Robinet C, Khau Van Kien P, Lorcerie B, Munnich A, Maroteaux P, Cormier-Daire V, LeMerrer M
Centre de Génétique, Hôpital d'Enfants, Dijon, France.
Am J Med Genet. 2001 Mar 1;99(2):132-6. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co;2-a.
Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodular goiter suggestive of McCune-Albright 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 GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene.
马扎布罗综合征是一种罕见的散发性疾病，主要特征为骨纤维发育不良和肌内黏液瘤。我们在此报告两例新的马扎布罗综合征病例。我们的一名患者（患者1）还出现了咖啡斑和多结节性甲状腺肿，提示McCune-Albright综合征。我们回顾了先前报道的37例马扎布罗综合征病例，并讨论了37例中有6例符合马扎布罗综合征和McCune-Albright综合征标准的患者。基于这两种综合征之间的临床重叠，我们检测了患者1血液白细胞和皮肤成纤维细胞中的GNAS1基因，但未发现GNAS1基因激活突变的证据。
