C

 

Coffin-Siris sendromu

Kalıtsal - AD

8 fenotip (5'inde maksillofasiyal bulgular önemsiz)

Gelişme geriliği

Mikrosefali

Saçlar gür

Aşırı kıllanma (sırt, kollar, yüz)

Kaba yüz yapısı

Kalın kaş çıkıntıları

Uzun kirpikler

Göz anomalileri

Burun sırtı ve ucu geniş

İşitme sorunları

Filtrum geniş

Dudaklar kalın-kıvrımlı

Makrostomi

Diş sürmelerinde aksamalar

GİS, ürogenital ve kardiyovasüler anomaliler

Santral sinir sistemi anomalileri

Psikomotor gerilik

Hipotoni

Epileptiform ataklar

5.parmak distal falanks ve ayak başparmak hipoplazisi/aplazisi

Etkilenen parmaklarda tırnak yokluğu

Eklem sorunları

 

  • Schrier SA, Bodurtha JN, Burton B, et al. The Coffin-Sİris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. American Journal of Medical Genetics A, 158A(8):1865-1876, 2012

  • Tsurusaki Y, Okamoto N, Ohashi H, et al. Mutations affecting components of the SWI/SNF complex cause Coffin-Sİris syndrome. Nature Genetics, 44: 376-378, 2012

  • Santen GW, Aten E, Vulto-van Silfhout AT, et al. Coffin-Sİris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Human Mutation, 34(11):1519-1528, 2013

  • Nemani L, Barik R, Patnaik AN, et al. Coffin-Sİris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature. Annals of Pediatric Cardiology, 7(3):221-226, 2014

  • Kosho T, Miyake N, Carey JC. Coffin-Sİris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 166(3):241-251, 2014

  • Zawerton A, Yao B, Yeager JP, et al. De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism. American Journal of Human Genetics, 104: 246-259, 2019

  • Machol K, Rousseau J, Ehresmann S, et al. Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay. American Journal of Human Genetics, 104: 164-178, 2019