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Klippel-Feil sendromu

Kalıtsal - AD

4 fenotip (2,3,4 çok ender)

Klippel-Feil anomalisi

Ensede düşük saç çizgisi

Mondini malformasyonu

Yüz asimetrik

Yarık damak

Uvula bifida

Nörolojik bulgular (spastik hareket, paralizi, parestezi, ayna hareketi)

Servikal spinal kanalda darlık

Spina bifida ve skolyoz

Tortikollis

Skapula dislokasyonu (Sprengel deformasyonu)

Beyinde malformasyonlar (Chiari malformasyonu, hidrosefalus)

Akciğer hipoplazisi

 

  • Schilgen M, Loeser H. Klippel-Feil anomaly combined with fetal alcohol syndrome. European Spine Journal, 3(5):289-290, 1994

  • Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clinical Orthopaedics & Related Research, (424):183-190, 2004

  • Paksoy Y, Seker M, Kalkan E. Klippel-Feil syndrome associated with persistent trigeminal artery. Spine (Philadelphia), 29(9):E193-196, 2004

  • Erol M, Caksen H, Tan O, et al. Report of a girl with Klippel-Feil syndrome and Poland anomaly. Genetic Counseling, 15: 469-472, 2004

  • Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurgery Clinics of North America, 18(3):463-478, 2007

  • Samartzis D, Lubicky JP, Herman J, Shen FH. Faces of spine care: From the clinic and imaging suite. Klippel-Feil syndrome and associated abnormalities: the necessity for a multidisciplinary approach in patient management. Spine Journal, 7(1):135-137, 2007

  • Tassabehji M, Fang ZM, Hilton EN, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Human Mutation, 29: 1017-1027, 2008