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
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Saal HM, Pagon RA, Pepin MG. Reevaluation of Russell-Silver syndrome. Journal of Pediatrics, 107:733–737, 1985
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Azcona C, Stanhope R. Hypoglycaemia and Russell-Silver syndrome. Journal of Pediatric Endocrinology and Metabolism, 18:663–670, 2005
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Wakeling EL, Amero A, Alders M, et al. Epigenotype-phenotype correlatinos in Silver-Russell syndrome. Journal of Medical Genetics, 47:760–768, 2010
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Wakeling EL. Silver-Russell syndrome. Archives of Diseases in Childhood, 96(12):1156-1161, 2011
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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
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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
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Ishida M. New developments in Silver–Russell syndrome and implications for clinical practice. Epigenomics, 8(4):563-580, 2016
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Ounap K. Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology. Molecular Syndromology, 7(3):110-121, 2016