Pediatrics reports on the condition Fibrodysplasia Ossificans Progressiva in the current issue. The researchers would like pediatricians to be aware of the signs of this rare genetic disorder - congenital malformation of the great toe. Early diagnosis is crucial because the invasive tests can make the disorder worse and it is frequently misdiagnosed as cancer. If the disorder is suspected, genetic counseling and testing is recommended.
Fibrodysplasia Ossificans Progressiva is a extremely rare genetic disorder (230 known cases in US) that causes bone to form in muscles, tendons, ligaments and other connective tissues.
References: International Fibrodysplasia Ossificans Progressiva. FOP Facts in Brief Sheet. Retrieved from the web on 5/7/08 from http://www.ifopa.org/factsinbrief.html
Kaplan, Frederick S., Xu, Meiqi, Glaser, David L., Collins, Felicity, Connor, Michael, Kitterman, Joseph, Sillence, David, Zackai, Elaine, Ravitsky, Vardit, Zasloff, Michael, Ganguly, Arupa, Shore, Eileen M.
Early Diagnosis of Fibrodysplasia Ossificans Progressiva
Pediatrics 2008 121: e1295-e1300
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