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:: Volume 19, Issue 3 (10-2017) ::
J Gorgan Univ Med Sci 2017, 19(3): 111-115 Back to browse issues page
Fibrodysplasia ossificans progressive: A case report
M Oladnabi * 1, T Haddadi2 , A Kianmehr3 , N Mansour Samaei4 , M Aghaie5
1- Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran , oladnabidozin@yahoo.com
2- Nurse, Sayad Shirazi Hospital, Golestan University of Medical Sciences, Gorgan, Iran
3- Assistant Professor, Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
4- Assistant Professor, Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
5- Associate Professor, Department of Internal Medicine, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
Abstract:   (8251 Views)
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant disorder having variable expressivity with complete penetrance. FOP incidence has been estimated to be 1 per 2 million. FOP caused by mutations in ACVR1 gene encoding bone morphogenetic protein type-1 receptor. To date, 15 types of mutations have been reported. The majority of cases were determined to be the rsult of a new mutation occuring sporadically. Here we report a 20 years old girl who's suffering FOP for 11 years.
Keywords: Fibrodysplasia ossificans progressiva, ACVR1, Autosomal dominant
Full-Text [PDF 226 kb] [English Abstract]   (11841 Downloads) |   |   Abstract (HTML)  (835 Views)  
Type of Study: Case Report | Subject: Internal Medicine
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Oladnabi M, Haddadi T, Kianmehr A, Mansour Samaei N, Aghaie M. Fibrodysplasia ossificans progressive: A case report. J Gorgan Univ Med Sci 2017; 19 (3) :111-115
URL: http://goums.ac.ir/journal/article-1-3146-en.html


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Volume 19, Issue 3 (10-2017) Back to browse issues page
مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
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