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
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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
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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
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Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatrics, 44(12):931-933, 2007
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Sergouniotis PI, Fincham GS, McNinch AM, et al. Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (London), 29(4):475-482, 2015