V

 

van der Hoeve sendromu

Osteogenesis imperfecta’nın fenotipi

3 temel bulgunun baskın olduğu sendrom:

1. Mavi sklera (çok belirgin)

2. Kırılgan kemikler (güçlü osteoporoz)

3. İşitme sorunları

 

Chérié-Lignière G, Tamborini U, Grosso P. Algodystrophy in conjunction with van der Hoeve's syndrome. Clinical & Experimental Rheumatology, 13(3):361-365, 1995

Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Current Opinion in Pediatrics, 12(6):603-609, 2000

Van Dijk FS, Sillence DO. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. American Journal of Medical Genetics, 164A:1470–1481, 2014

Hoyer-Kuhn H, Netzer C, Semler O. Osteogenesis imperfecta: pathophysiology and treatment.  Wiener Medizinische Wochensschrift, 165(13-14):278-284, 2015