Khan Yousuf Aziz, Ahmad Soofia
Department of Paediatric Surgery, National Institute of Child Health, Karachi- 75510, Pakistan.
APSP J Case Rep. 2013 May 9;4(2):15. eCollection 2013.
Maffucci's syndrome is a rare non hereditary disorder characterized by multiple enchondromas and haemangiomas. A 12 year old boy presented with a painful swelling at his right hand and deformed left upper limb. On detailed workup, he was found to have multiple enchondromas involving long bones and a single haemangioma. A diagnosis of Maffucci's syndrome was established. The clinical features and workup of the disease in our patient is reported.
马富西综合征是一种罕见的非遗传性疾病,其特征为多发性内生软骨瘤和血管瘤。一名12岁男孩因右手疼痛性肿胀和左上肢畸形前来就诊。经过详细检查,发现他患有累及长骨的多发性内生软骨瘤和单个血管瘤。确诊为马富西综合征。本文报告了该患者的临床特征及检查情况。