Turner-Kieser sendromu | nail-patella sendromu |

Turner-Kieser sendromu (nail-patella sendromu)

Kalıtsal - AD

Gelişme geriliği

Ptosis

Katarakt

Glokom

İriste anormal pigmenrasyon

Mikrokornea

Lens küçüklüğü

Yarık dudak

Yarık damak

Glomerülonefrit ve renal yetmezlik

Omuz eklemi anomalileri

Sternum malformasyonu

Kostalarda hipoplazi

Patella hipolazisi ve dislokasyonu

Radius hipoplazisi

Bileklerde deformasyonlar

Skolyoz

Spina bifida

Kas aplazileri (pectoral, biceps, triceps, quadriceps)

Tırnak malformasyonları

Looij BJ Jr, Te Slaa RL, Hogewind BL, van de Kamp JJP. Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. Jornal of Medical Genetics, 25: 682-686, 1988
Sweeney, E., Fryer, A., Mountford, R., Green, A., McIntosh, I. Nail patella syndrome: a review of the phenotype aided by developmental biology. Jornal of Medical Genetics, 40: 153-162, 2003
Towers AL, Clay CA, Sereika SM, et al. Skeletal integrity in patients with nail patella syndrome. Journal of Clinical Endocrinology & Metabolism, 90: 1961-1965, 2005