Russell-Silver sendromu

Spontan/Kalıtsal - AD

Gelişme geriliği

Gövde asimetrik

Ekstremite uzunlukları asimetrik

Alın bombesi yüksek/geniş

Yalancı hidrosefal görünümü

Bebeklerde mavi sklera

Kulaklar iri

Yüz küçük-asimetrik

Yüz üçgen biçiminde

Kommisuralar aşağı dönük

Makrostomi

Çukur damak

Yarık damak

Uvula bifida

Mikrognati (her iki çene)

Maloklüzyon

Mikrodonti

Hipodonti

Mine defektleri

Hipoglisemi

Kalp septumlarında defektler

Ürogenital anomaliler

Deri pigmentasyonu (café-au-lait)

Taban ve avuçlarda hiperkeratoz

Distrofik ve küçük tırnaklar

Kol ve parmak anomalileri

Ekstremiteler asimetrik

Hipoglisemi

Kanser riski (Wilms tümörü, kraniyofaringioma, hepatosellüler ca, seminoma)

Bkz Beckwith-Wiedemann sendromu

 

• Saal HM, Pagon RA, Pepin MG. Reevaluation of Russell-Silver syndrome. Journal of Pediatrics, 107:733–737, 1985

• Azcona C, Stanhope R. Hypoglycaemia and Russell-Silver syndrome. Journal of Pediatric Endocrinology and Metabolism, 18:663–670, 2005

• Wakeling EL, Amero A, Alders M, et al. Epigenotype-phenotype correlatinos in Silver-Russell syndrome. Journal of Medical Genetics, 47:760–768, 2010

• Wakeling EL. Silver-Russell syndrome. Archives of Diseases in Childhood, 96(12):1156-1161, 2011

• Penaherrera MS, Weindler S, Van Allen MI, et al. Methylation profiling in individuals with Russell-Silver syndrome. American Journal of Medical Genetics A, 152A: 347-355, 2010

• Gronlund MA, Dahlgren J, Aring E, et al. Ophthalmological findings in children and adolescents with Silver-Russell syndrome. British Journal of Ophthalmology, 95: 637-641, 2011

• Ishida M. New developments in Silver–Russell syndrome and implications for clinical practice. Epigenomics, 8(4):563-580, 2016

• Ounap K. Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Molecular Syndromology, 7(3):110-121, 2016

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