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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

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