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