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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

 

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