Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Author:

Wakeling Emma L.,Brioude Frédéric,Lokulo-Sodipe Oluwakemi,O'Connell Susan M.,Salem Jennifer,Bliek Jet,Canton Ana P. M.,Chrzanowska Krystyna H.,Davies Justin H.,Dias Renuka P.,Dubern Béatrice,Elbracht Miriam,Giabicani Eloise,Grimberg Adda,Grønskov Karen,Hokken-Koelega Anita C. S.,Jorge Alexander A.,Kagami Masayo,Linglart Agnes,Maghnie Mohamad,Mohnike Klaus,Monk David,Moore Gudrun E.,Murray Philip G.,Ogata Tsutomu,Petit Isabelle Oliver,Russo Silvia,Said Edith,Toumba Meropi,Tümer Zeynep,Binder Gerhard,Eggermann Thomas,Harbison Madeleine D.,Temple I. Karen,Mackay Deborah J. G.,Netchine Irène

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference164 articles.

1. Silver, H. K., Kiyasu, W., George, J. & Dearner, W. C. Syndrome of congenital hemihypertrophy, shortening of stature and elevated urinary gonadotropins. Pediatrics 12, 368–373 (1953).

2. Russell, A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc. R. Soc. Med. 47, 1040–1044 (1954).

3. Wollmann, H. A., Kirchner, T., Enders, H., Preece, M. A. & Ranke, M. B. Growth and symptoms in Silver–Russell syndrome: review on the basis of 386 patients. Eur. J. Pediatr. 154, 958–968 (1995).

4. Netchine, I. et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell–Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J. Clin. Endocrinol. Metab. 92, 3148–3154 (2007).

5. Price, S. M., Stanhope, R., Garrett, C., Preece, M. A. & Trembath, R. C. The spectrum of Silver–Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36, 837–842 (1999).

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