S

 

Shprintzen-Goldberg sendromu

Kalıtsal - AD

Kraniyosinostozis

Yonca yaprağı kranyum

Mikrosefali

Dolikosefali

Alın bombesi yüksek/geniş

Hipertelorizm

Ptozis

Strabismus

Kulaklar aşağıda

Maksilla hipoplazisi (mikrognati)

Mikrognati

Retrognati

Çukur damak

Yarık damak

Uvula bifida

Maloklüzyon

Mitral ve aort kapakları yetmezliği

Apne atakları

Marfanoid yapı (araknodaktili, mitral kapak prolapsusu, gevşek eklemler)

Osteopeni

Toraks malformasyonları

Skolyoz

Ayak anomalileri

Beyinde Arnold-Chiari malformasyonları

Psikomotor gelişme

Hipotoni

 

  • Stoll C. Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years. Clinical Dysmorphology, 11:1–7, 2002

  • Robinson PN, Neumann LM, Demuth S, et al. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. American Journal of Medical Genetics A, 135(3):251-262, 2005

  • Carmignac V, Thevenon J, Adès L, et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. American Journal of Human Genetics, 91:950–957, 2012

  • Doyle AJ, Doyle JJ, Bessling SL, et al. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nature Genetics, 4:1249–1254, 2012

  • Au PY, Racher HE, Graham JM Jr, et al. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. American Journal of Human Genetics A, 164A(3):676-68, 2014

  • Schepers D, Doyle AJ, Oswald G, et al. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. European Journal of Human Genetics, 23: 224-228, 2015