{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T11:44:27Z","timestamp":1698493467816},"reference-count":26,"publisher":"Akademiai Kiado Zrt.","issue":"45","license":[{"start":{"date-parts":[[2022,11,6]],"date-time":"2022-11-06T00:00:00Z","timestamp":1667692800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2022,11,6]]},"abstract":"<jats:p>A Silver\u2013Russell-szindr\u00f3ma jellegzetes minor anom\u00e1li\u00e1k mellett (relat\u00edv\n                    macrocephalia, kiemelked\u0151 homlok, k\u00e9k sclera, lefel\u00e9 \u00edvel\u0151 sz\u00e1jzug,\n                    micrognathia, alacsonyan \u00fcl\u0151 f\u00fclek, illetve arc-, skeletalis \u00e9s v\u00e9gtagi\n                    aszimmetria) s\u00falyos, m\u00e9hen bel\u00fcli \u00e9s sz\u00fclet\u00e9st k\u00f6vet\u0151 n\u00f6veked\u00e9si zavarral j\u00e1r.\n                    Az endokrin rendszert \u00e9rint\u0151 elt\u00e9r\u00e9sek is kiemelt jelent\u0151s\u00e9g\u0171ek. Kialakul\u00e1s\u00e1nak\n                    molekul\u00e1ris h\u00e1ttere \u00f6sszetett, de a leggyakrabban a 11-es kromosz\u00f3ma \u00e9s\/vagy a\n                    7-es kromosz\u00f3ma Silver\u2013Russell-szindr\u00f3ma szempontj\u00e1b\u00f3l kritikus r\u00e9gi\u00f3inak\n                    \u00e9rintetts\u00e9ge okozza. A molekul\u00e1ris g\u00e9ndiagnosztika mellett a\n                    Netchine\u2013Harbison-f\u00e9le klinikai diagnosztikai pontrendszer seg\u00edti a diagn\u00f3zis\n                    fel\u00e1ll\u00edt\u00e1s\u00e1t. B\u00e1r a t\u00fcnetegy\u00fcttes t\u00f6bbnyire sporadikus megjelen\u00e9s\u0171, rendk\u00edv\u00fcl\n                    ritka famili\u00e1ris halmoz\u00f3d\u00e1st bemutat\u00f3 eset\u00fcnkben a n\u00e9gy testv\u00e9rb\u0151l h\u00e1rom\n                    gyermekn\u00e9l Silver\u2013Russell-szindr\u00f3ma ker\u00fclt felismer\u00e9sre. A\n                    Silver\u2013Russell-szindr\u00f3ma korai, lehet\u0151leg m\u00e1r \u00fajsz\u00fcl\u00f6ttkori diagnosztiz\u00e1l\u00e1sa\n                    kulcsfontoss\u00e1g\u00fa a megfelel\u0151 t\u00e1pl\u00e1l\u00e1svezet\u00e9s, a korai fejleszt\u00e9s, majd a\n                    n\u00f6veked\u00e9sihormon-kezel\u00e9s id\u0151ben t\u00f6rt\u00e9n\u0151 elkezd\u00e9se szempontj\u00e1b\u00f3l. A betegek\n                    gondoz\u00e1sa \u00e9s megfelel\u0151 ut\u00e1nk\u00f6vet\u00e9se kiemelked\u0151 jelent\u0151s\u00e9g\u0171 a szindr\u00f3m\u00e1hoz\n                    t\u00e1rsul\u00f3 potenci\u00e1lis sz\u00f6v\u0151dm\u00e9nyek id\u0151ben t\u00f6rt\u00e9n\u0151 felismer\u00e9se \u00e9s megfelel\u0151\n                    kezel\u00e9se c\u00e9lj\u00e1b\u00f3l. Orv Hetil. 2022; 163(45): 1775\u20131781.<\/jats:p>","DOI":"10.1556\/650.2022.32616","type":"journal-article","created":{"date-parts":[[2022,11,19]],"date-time":"2022-11-19T05:11:47Z","timestamp":1668834707000},"page":"1775-1781","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":0,"title":["A Silver\u2013Russell-szindr\u00f3ma diagnosztikai l\u00e9p\u00e9sei \u00e9s ter\u00e1pi\u00e1s lehet\u0151s\u00e9gei egy csal\u00e1di halmoz\u00f3d\u00e1st mutat\u00f3 eset kapcs\u00e1n"],"prefix":"10.1556","volume":"163","author":[{"given":"\u00c1rp\u00e1d Ferenc","family":"Kov\u00e1cs","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, II. Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, T\u0171zolt\u00f3 utca 7\u20139., 1094 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikolett Jusztina","family":"Beniczky","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, II. Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, T\u0171zolt\u00f3 utca 7\u20139., 1094 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita \u00c1gnes","family":"Bertalan","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, II. Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, T\u0171zolt\u00f3 utca 7\u20139., 1094 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gnes","family":"Sallai","sequence":"additional","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, II. Gyermekgy\u00f3gy\u00e1szati Klinika Budapest, T\u0171zolt\u00f3 utca 7\u20139., 1094 Magyarorsz\u00e1g"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","unstructured":"1 Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 7th edn. Elsevier Saunders, Philadelphia, PA, 2013; pp. 128-131."},{"key":"ref1","unstructured":"2 Kaiser \u00c9, Weisenbach J, M\u00e9hes K, et al. Silver-Russell syndrome in a 5 and one half-year-old boy. [Silver-Russell-szindr\u00f3ma 5 \u00e9s f\u00e9l \u00e9ves fi\u00fagyermekben.] Orv Hetil. 1973; 114: 2908-2910. [Hungarian]"},{"key":"ref2","unstructured":"3 Szelid Zs, T\u00f3th P. Silver-Russell syndrome. [Silver-Russell-szindr\u00f3ma.] Gyermekgy\u00f3gy\u00e1szat 1974; 25: 416-420. [Hungarian]"},{"key":"ref3","unstructured":"4 Szab\u00f3 L, Kardos G, Cholnoky P, et al. Silver-Russell type of growth retardation. [A n\u00f6veked\u00e9s elmarad\u00e1s\u00e1nak Silver-Russell-t\u00edpusa.] Orv Hetil. 1977; 118: 1601-1606. [Hungarian]"},{"key":"ref4","unstructured":"5 Ruszink\u00f3 V. Recent occurrence of the Silver-Russell syndrome. [Silver-Russell-szindr\u00f3ma \u00fajabb esete.] Gyermekgy\u00f3gy\u00e1szat 1992; 43: 289-292. [Hungarian]"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/nrendo.2016.138","article-title":"Diagnosis and management of Silver-Russell syndrome: first international consensus statement","volume":"13","author":"6 Wakeling","year":"2017","unstructured":"6 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: 105-124.","journal-title":"Nat Rev Endocrinol"},{"key":"ref6","doi-asserted-by":"publisher","unstructured":"7 K\u00f6hler S, Gargano M, Matentzoglu N, et al. The human phenotype ontology in 2021. Nucleic Acids Res. 2021; 49: D1207-D1217.","DOI":"10.1093\/nar\/gkaa1043"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"8 Firth HV, Hurst JA. Oxford desk reference: clinical genetics and genomics. Oxford Univeristy Press, Oxford, 2017.","DOI":"10.1093\/med\/9780199557509.001.0001"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","article-title":"A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome","volume":"52","author":"9 Azzi","year":"2015","unstructured":"9 Azzi S, Salem J, Thibaud N, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015; 52: 446-453.","journal-title":"J Med Genet"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1097\/MED.0b013e32833363cc","article-title":"Transient adrenal insufficiency in the premature newborn","volume":"17","author":"Quintos JB","year":"2010","unstructured":"10 Quintos JB, Boney CM. Transient adrenal insufficiency in the premature newborn. Curr Opin Endocrinol Diabetes Obes. 2010; 17: 8-12.","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1007\/BF01958638","article-title":"Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients","volume":"154","author":"11 Wollmann","year":"1995","unstructured":"11 Wollmann HA, Kirchner T, Enders H, et al. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr. 1995; 154: 958-968.","journal-title":"Eur J Pediatr"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"804","DOI":"10.1210\/jc.2006-2017","article-title":"Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society","volume":"92","author":"12 Clayton","year":"2007","unstructured":"12 Clayton PE, Cianfarani S, Czernichow P, et al. Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. 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Clin Endocrinol (Oxf.) 2007; 67: 485-492.","DOI":"10.1111\/j.1365-2265.2007.02913.x"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"1402","DOI":"10.1210\/jc.2007-1897","article-title":"The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration","volume":"93","author":"15 Binder","year":"2008","unstructured":"15 Binder G, Seidel AK, Martin DD, et al. The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab. 2008; 93: 1402-1407.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref15","doi-asserted-by":"publisher","unstructured":"16 Smeets CC, Zandwijken GR, Renes JS, et al. Long-term results of GH treatment in Silver-Russell syndrome (SRS): do they benefit the same as non-SRS short-SGA? J Clin Endocrinol Metab. 2016; 101: 2105-2112.","DOI":"10.1210\/jc.2015-4273"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1007\/BF02282833","article-title":"Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW)","volume":"155","author":"17 Rakover","year":"1996","unstructured":"17 Rakover Y, Dietsch S, Ambler GR, et al. Growth hormone therapy in Silver Russell syndrome: 5 years experience of the Australian and New Zealand Growth database (OZGROW). Eur J Pediatr. 1996; 155: 851-857.","journal-title":"Eur J Pediatr"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1203\/01.PDR.0000169980.35179.89","article-title":"Time course of catch-up in adiposity influences adult anthropometry in individuals who were born small for gestational age","volume":"58","author":"18 Ezzahir","year":"2005","unstructured":"18 Ezzahir N, Alberti C, Deghmoun S, et al. Time course of catch-up in adiposity influences adult anthropometry in individuals who were born small for gestational age. Pediatr Res. 2005; 58: 243-247.","journal-title":"Pediatr Res"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"4100","DOI":"10.1210\/jc.2017-00874","article-title":"Adrenarche in Silver-Russell syndrome: timing and consequences","volume":"102","author":"19 Binder","year":"2017","unstructured":"19 Binder G, Schweizer R, Blumenstock G, et al. Adrenarche in Silver-Russell syndrome: timing and consequences. J Clin Endocrinol Metab. 2017; 102: 4100-4108.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"5753","DOI":"10.1210\/jc.2003-030512","article-title":"Puberty in growth hormone-treated children born small for gestational age (SGA)","volume":"88","author":"20 Boonstra","year":"2003","unstructured":"20 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: 5753-5758.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"4096","DOI":"10.1210\/jc.2012-1987","article-title":"Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: results of a randomized, dose-response GH trial","volume":"97","author":"21 Lem","year":"2012","unstructured":"21 Lem AJ, van der Kaay DC, de Ridder MA, et al. Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: results of a randomized, dose-response GH trial. J Clin Endocrinol Metab. 2012; 97: 4096-4105.","journal-title":"J Clin Endocrinol Metab"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1136\/jmg.2010.079111","article-title":"Epigenotype-phenotype correlations in Silver-Russell syndrome","volume":"47","author":"22 Wakeling","year":"2010","unstructured":"22 Wakeling EL, Amero SA, Alders M, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet. 2010; 47: 760-768.","journal-title":"J Med Genet"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1097\/01241398-200409000-00017","article-title":"Musculoskeletal manifestations of Russell-Silver syndrome","volume":"24","author":"23 Abraham","year":"2004","unstructured":"23 Abraham E, Altiok H, Lubicky JP. Musculoskeletal manifestations of Russell-Silver syndrome. J Pediatr Orthop. 2004; 24: 552-564.","journal-title":"J Pediatr Orthop"},{"key":"ref23","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/ajmg.1320560223","article-title":"Craniofacial and dental characteristics of Silver-Russell syndrome","volume":"56","author":"24 Kotilainen","year":"1995","unstructured":"24 Kotilainen J, H\u00f6ltt\u00e4 P, Mikkonen T, et al. Craniofacial and dental characteristics of Silver-Russell syndrome. Am J Med Genet. 1995; 56: 229-236.","journal-title":"Am J Med Genet"},{"key":"ref24","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1210\/jc.2008-1805","article-title":"Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies","volume":"94","author":"25 Bruce","year":"2009","unstructured":"25 Bruce S, Hannula-Jouppi K, Peltonen J, et al. 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