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颌骨固定是进行性骨化性纤维发育不良诊断的关键。

Jaw fixation as the key to diagnosis of fibrodysplasia ossificans progressiva.

作者信息

Marrannes J, Box I, Haspeslagh M, Gryspeerdt S

机构信息

Department of Radiology, Stedelijk Ziekenhuis, Roeselare, Belgium.

出版信息

JBR-BTR. 2006 Jul-Aug;89(4):195-7.

Abstract

Fibrodysplasia ossificans progressiva is a very rare and disabling hereditary disorder of connective tissue characterised by symmetric congenital anomalies of the great toes and thumbs and by progressive heterotopic ossification of tendons, ligaments, fasciae and striated muscles. In this case we report a 17-year-old boy who presented with a painful swelling of the right mandibula with trismus. Multiple heterotopic soft tissue calcifications, severe scoliosis and typical anomalies of toes and thumbs on the radiographs were pathognomonic for fibrodysplasia ossificans progressiva.

摘要

进行性骨化性纤维发育不良是一种非常罕见且使人致残的结缔组织遗传性疾病,其特征为大脚趾和拇指的对称性先天性异常,以及肌腱、韧带、筋膜和横纹肌的进行性异位骨化。在本病例中,我们报告一名17岁男孩,他因右侧下颌骨疼痛性肿胀伴牙关紧闭前来就诊。X线片上的多处异位软组织钙化、严重脊柱侧弯以及典型的脚趾和拇指异常是进行性骨化性纤维发育不良的特征性表现。

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