Il punto sulla sindrome di Silver-Russell dopo il primo Consensus internazionale

1. Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 2017;13(2):105- 24. 2. Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins. Pediatrics 1953;12(4):368-76. 3. 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 1954;47(12):1040-4. 4. Wakeling EL. Silver-Russell syndrome. Arch Dis Child 2011;96(12):1156-61. 5. Bartholdi D, Krajewska-Walasek M, Ounap K, et al. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. J Med Genet 2009;46:192-7. 6. Netchine I, Rossignol S, Dufourg MN, et al. 11p15 ICR1 imprinting center region 1 loss of methylation is a common and specific cause of typical Russel-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 2007;92(8):3148-54. 7. Salem J, Harbison M, Netchine I. RSS/SGA - A comprehensive guide: understanding aspects of children diagnosed as having Russell-Silver syndrome or born small-for-gestational- age. Chico, CA: Quadco Printing Inc, 2009. 8. Azzi S, Salem J, Thibaud N, et al. Prospective study validating a clinical scoring system and demonstrating phenotypical- genotypical correlations in Silver-Russell syndrome. J Med Genet 2015;52(7):446-53. 9. Dias RP, Nightingale P, Hardy C, et al. Comparison of the clinical scoring systems in Silver- Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing. J Med Genet 2013;50(9):635-9. 10. Russo S, Calzari L, Mussa A, et al. A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.Clin Epigenetics 2016;8:23. 11. Begemann M, Zirn B, Santen G et al. Paternally Inherited IGF2 Mutation and Growth Restriction. N Engl J Med 2015;373(4):349-56. 12. Abi Habib W, Brioude F, Edouard T, et al. Genetic disruption of the oncogenic HMGA2- PLAG1-IGF2 pathway causes fetal growth restriction. Genet Med 2017. 13. Toumba M, Albanese A, Azcona C, Stanhope R. Effect of long-term growth hormone treatment on final height of children with Russell- Silver syndrome. Horm Res Paediatr 2010; 74(3):212-7. 14. Ranke MB, Lindberg A. Growth hormone treatment of short children born small for gestational age or with Silver-Russell syndrome: results from KIGS (Kabi International Growth Study), including the first report on final height. Acta Paediatr Suppl 1996;417:18-26. 15. Ranke MB, Lindberg A; KIGS International Board. Height at start, first-year growth response and cause of shortness at birth are major determinants of adult height outcomes of short children born small for gestational age and Silver-Russell syndrome treated with growth hormone: analysis of data from KIGS. Horm Res Paediatr 2010;74(4):259-66. 16. Boonstra V, van Pareren Y, Mulder P, et al. Puberty in growth hormone-treated children born small for gestational age (SGA). J. Clin. Endocrinol. Metab 2003;88:5753-8. 17. Vu-Hong TA, Rossignol S, Chivu O, Cabrol S, Netchine I. Aggressive adrenarche in Silver– Russell Syndrome compromises final heightdespite GH treatment. Horm Res Paediatr 2011;76(Suppl. 2):234. 18. Wit JM, Hero M, Nunez SB. Aromatase inhibitors in pediatrics. Nat Rev Endocrinol 2012; 8:135-47. 19. Giabicani E, Boule M, Galliani E, Netchine I. Sleep apneas in Silver Russell syndrome: a constant finding. Horm Res Paediatr 2015; 84(Suppl. 1):262. 20. Searle C, Johnson D. Russel-Silver syndrome: a historical note and comment on an older adult. Am J Med Genet A 2016;170A(2): 466-70. 21. Lai KY, Skuse D, Stanhope R, Hindmarsh P. Cognitive abilities associated with the Silver- Russell syndrome. Arch Dis Child 1994;71(6): 490-6. 22. Augustine EF, Blackburn J, Pellegrino JE, Miller R, Mink JW. Myoclonus-dystonia syndrome associated with Russell Silver syndrome. Mov Disord 2013;28(6):841-2. 23. Sheridan MB, Bytyci Telegrafi A, Stinnett V, et al. Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. Clin Genet 2013;84 (4):368-72. 24. Feuk L1, Kalervo A, Lipsanen-Nyman M, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet 2006;79(5):965-72. 25. Menni F, de Lonlay P, Sevin C. Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics 2001;107(3):476-9. 26. Andersson Grönlund M, Dahlgren J, Aring E, Kraemer M, Hellström A. Ophthalmological findings in children and adolescents with Silver- Russell syndrome. Br J Ophthalmol 2011; 95(5):637-41. 27. Yamaguchi KT Jr, Salem JB, Myung KS, Romero AN Jr, Skaggs DL. Spinal deformity in Russell–Silver syndrome. Spine Deform 2015; 3(1):95-7. 28. Bergman A, Kjellberg H, Dahlgren J. Craniofacial morphology and dental age in children with Silver-Russell syndrome. Orthod Craniofac Res 2003;6(1):54-62. 29. Abraham MB, Carpenter K, Baynam GS, Mackay DJ, Price G, Choong CS. Report and review of described associations of Mayer- Rokitansky-Küster-Hauser syndrome and Silver- Russell syndrome. J Paediatr Child Health 2014 Nov 23 [Epub ahead of print].