Kniest displazi sendromu

Kalıtsal - AD

Gelişme geriliği

Hipertelorizm

Patlak gözler

Myopi

Retina dekolmanı

Katarakt

İşitme sorunları

Yüz yuvarlak/basık

Yarık damak

Hareketleri kısıtlayan iri/ağrılı eklemler

Vertebra ve pelvis anomalileri

Kifoskolyoz

Ayak parmakları anomalileri

Yassı kemikler ince

Herniler

Wilkin DJ, Artz AS, South S, et al. Small deletions in the type II collagen triple helix produce kniest dysplasia. American Journal of Medical Genetics, 85(2):105-112, 1999
Yokoyama T, Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. American Journal of Ophthalmology, 136(6):1186-1188, 2003
Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatrics, 44(12):931-933, 2007
Sergouniotis PI, Fincham GS, McNinch AM, et al. Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (London), 29(4):475-482, 2015