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Walker-Warburg sendromu (Hard sendromu)

Kalıtsal - AR

14 fenotip

Mikrosefali

Mikroftalmi

Retina hipoplazisi

Katarakt

Glokom

Megalokornea

Ekzoftalmi

Gözde ön kamera anomalileri

İris malformasyonu

Peters anomalisi

Körlük

Yarık dudak

Yarık damak

Makroglossi

Genital sistem hipoplazisi

Renal displazi

Skolyoz

Müsküler distrofi

Kas hipertrofisi

Hipotoni

Hidrosefalus

Corpus callosum hipoplazisi

Serebellum hipoplazisi/displazisi

Serebellar kistler

Beyin sapı hipoplazisi

Giruslarda düzleşme

Ponsta düzleşme

Epileptik ataklar

Zeka geriliği

  • Cormand B, Pihko H, Bayes M, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology, 56: 1059-1069, 2001

  • Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscular Disorders, 14: 635-649, 2004

  • van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome Journal of Medical Genetics, 42: 907-912, 2005

  • Godfrey C, Clement E, Mein R, et al. Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 130: 2725-2735, 2007

  • Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology, 64: 573-582, 2008

  • Yanagisawa A, Bouchet C, Quijano-Roy S, et al. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. European Journal of Medical Genetics, 52: 201-206, 2009

  • Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology, 72: 1802-1809, 2009