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进行性骨化性纤维发育不良

Fibrodysplasia Ossificans Progressiva.

作者信息

Rashid Usman, Bari Attia, Maqsood Amna, Naz Samia, Ahmad Tahir Masood

机构信息

Department of Pediatric Medicine, Children Hospital and Institute of Child Health, Lahore.

出版信息

J Coll Physicians Surg Pak. 2016 Feb;26(2):154-5.

PMID:26876407
Abstract

Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of connective tissue and congenital malformation of big toes. We report a 3-year male toddler with clinical and radiological features of FOP. He was born with bilateral hallux valgus and at the age of 3 years presented with hard swellings over back, scapular region and forehead that were initially inflammatory and then became bony hard. There is also tilting of neck towards the left due to calcification in neck region. The radiographs showed heterotopic ossification in thoracic region, neck, spine and region of hip joint.

摘要

进行性骨化性纤维发育不良(FOP)是一种罕见的常染色体显性疾病,其特征为出生后结缔组织进行性异位骨化以及大脚趾先天性畸形。我们报告一名3岁男性幼儿,具有FOP的临床和放射学特征。他出生时双侧拇外翻,3岁时背部、肩胛区和前额出现硬性肿胀,起初为炎症性,随后变得骨质坚硬。由于颈部钙化,颈部也向左倾斜。X线片显示胸部、颈部、脊柱和髋关节区域存在异位骨化。

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Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report.纤维性骨发育不良进展性的诊断困难和基因分析:一例报告。
BMC Med Genet. 2018 Feb 27;19(1):30. doi: 10.1186/s12881-018-0543-7.