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Fibrodysplasia ossificans progressiva: A case report

机译:骨化性纤维增生:一例报告

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Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder with unknown cause. Disease is characterized by heterotopic ossifications of connective tissue and congenital malformations of distal part of extremities. Most cases are sporadic and transmitted as autosomal dominant. As very few cases of FOP are being reported in Indian literature, we, therefore, report one such case here. Our case is a 20 years-old female patient who had bilateral short great toes with hallux valgus associated with heterotopic ossifications of connective tissue with restrictions of range of motion and disability of daily living activities. We have diagnosed it as FOP based on our physical examination and skeletal x-rays findings. DOI: http://dx.doi.org/10.3126/ajms.v5i4.9915 Asian Journal of Medical Sciences 2014 Vol.5(4); 113-115
机译:骨化性纤维增生症(FOP)是一种原因不明的遗传性疾病。疾病的特征是结缔组织异位骨化和四肢远端的先天性畸形。大多数病例是零星的,以常染色体显性传播。由于印度文献中报道的FOP病例很少,因此,我们在此报告一种此类病例。我们的病例是一名20岁的女性患者,双侧短脚趾长有拇外翻,伴有结缔组织异位骨化,活动范围和日常生活能力受到限制。根据身体检查和骨骼X线检查结果,我们将其诊断为FOP。 DOI:http://dx.doi.org/10.3126/ajms.v5i4.9915亚洲医学杂志2014卷5(4); 113-115

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