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石化人:进行性骨化性肌炎(纤维发育不良)

The stone man: myositis (fibrodysplasia) ossificans progressiva.

作者信息

Baysal T, Elmali N, Kutlu R, Baysal O

机构信息

Department of Radiology, Inonu University Faculty of Medicine, Turgut Ozal Medical Center Malatya, Turkey.

出版信息

Eur Radiol. 1998;8(3):479-81. doi: 10.1007/s003300050420.

DOI:10.1007/s003300050420
PMID:9510591
Abstract

Myositis ossificans progressiva (MOP) is a rare hereditary connective tissue disorder characterized by progressive ossification of striated muscle and connective tissue associated with pain and disability. It is presumably transmitted as an autosomal dominant defect. Congenital anomalies of the hands and feet are early signs of this disease. Involvement of the spine, hips and extremities lead to the development of the "stone man" with only less than 600 cases reported in the literature. We present a case of MOP with typical muscle ossifications and skeletal malformations.

摘要

进行性骨化性肌炎(MOP)是一种罕见的遗传性结缔组织疾病,其特征为横纹肌和结缔组织进行性骨化,并伴有疼痛和功能障碍。据推测,它以常染色体显性缺陷的方式遗传。手足先天性畸形是该疾病的早期体征。脊柱、髋部和四肢受累会导致“石人”的形成,文献报道的病例不足600例。我们报告一例具有典型肌肉骨化和骨骼畸形的进行性骨化性肌炎病例。

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