Fibrodysplasia ossificans progressiva: A case report with clinical and molecular findings
Makaleler > Tam Makale · 2015
Yazarlar: Tahir ATİK, Esra IŞIK, Höseyin Onay, Ismihan Merve Tekin, Hüseyin GÜNAY, Ferda Özkinay
Turkiye Klinikleri Pediatri, AHCI İndekslerine Giren Dergi, Uluslararası, Scopus, 2015, cilt 24, ss 164-168
DOI: 10.5336/pediatr.2015-46663
Özet
Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant disease characterized by new bone formation with in extraskeletal connective tissues and congenital malformations of the bigtoes. There have been described two types of FOP, classical and atypical. The heterozygous mutation (c.617GA; p.R206H) in ACVR1 gene, located at chromosome 2q23, has been discovered as there sponsible for classical FOP. A 5-year-old girl with FOP clinically diagnosed was found to have this recurrent mutation heterozygously. This case is reported to emphasize the importance of considering this rare syndrome on cases with similar symptoms.