G

 

Gnatodiyafizeal displazi sendromu (gnathodiaphyseal dysplasia)

Kalıtsal - AD

Yüz kemiklerinde yerel irilik

Yüzde asimetri

Çene kemikleri osteomyeliti

Çene kemiklerinde semento-osseöz oluşumlar

Osteopeni

Kırılgan kemikler

Uzun kemik diafizlerinde bükülme (radius, ulna, tibia, fibula)

Uzun kemik diafizlerinde kortikal skleroz

 

  • Levin, L. S., Wright, J. M., Byrd, D. L., Greenway, G., Dorst, J. P., Irani, R. N., Pyeritz, R. E., Young, R. J., Laspia, C. L. Osteogenesis imperfecta with unusual skeletal lesions: report of three families. Am. J. Med. Genet. 21: 257-269, 1985.Levin LS, Wright JM, Byrd DL, et al. Osteogenesis imperfecta with unusual skeletal lesions: report of three families. American Journal of Medical Genetics, 21: 257-269, 1985

  • Riminucci M, Collins MT, Corsi A, et al. Gnathodiaphyseal dysplasia: a syndrome of fibroosseous lesions of jawbones, bone fragility, and long bone bowing. The Journal of Bone and Mineral Research, 16: 1710-1718, 2001

  • Marconi C, Brunamonti Binello P, Badiali G, et al. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia (sic) in a large Italian pedigree. European Journal of Human Genetics, 21: 613-619, 2013