G

 

Goldblatt sendromu (odontochondrodysplasia)

Kalıtsal AR

Gelişme geriliği

Alın belirgin

Yüz dar

Filtrum uzun

Dentinogenesis imperfecta

Diş sürmelerinde aksamalar

Dar toraks

Solunum güçlüğü

Osteoporoz

Skolyoz

Pelvis kemikleri malformasyonları

Ekstremite kemikleri malformasyonları

Parmak anomalileri

 

  • Goldblatt J, Carman P, Sprague P. Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. American Journal of Medical Genetics, 39: 170-172, 1991

  • Bonaventure J, Stanescu R, Stanescu V, et al. Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity. American Journal of Medical Genetics, 44: 738-753, 1992

  • Unger S, Antoniazzi F, Brugnara M, et al. Clinical and radiographic delineation of odontochondrodysplasia. American Journal of Medical Genetics, 146A: 770-778, 2008

  • Wehrle A, Witkos TM, Unger S, et al. Hypomorphic mutations of TRIP11 cause odontochondrodysplasia. Journal of Clinical Investigation Insight, 4: e124701, 2019