Macrosomia, overgrowth.
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Chromosomal diseases associated with generalized overgrowth.
Syndromes associated with macrosomia but not late overgrowth.
Syndromes associated with macrosomia/macrocephaly and increased risk of cancer.
Keys clinical signs for the differential diagnosis of different syndromes.
Clinical algorithm for the study of generalized overgrowth/macrosomia.
19955111
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1.
Kamien B, Ronan A, Poke G, Sinnerbrink I, Baynam G, Ward M, et al. A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing. MSY [Internet]. 2018 [cited 2019 Sept 5];9(2):70–82. Available from: https://www.karger.com/Article/FullText/484532
Obesity.
Small for gestational age/low height.
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statussuccessupdateneededfalseinstancefalsemetarequest_last0request_next0used_cachetruedatakeyG4FHANK7libraryid19955111metacreatorSummaryWakelingetal.parsedDate2017-02numChildren1bibltdivclassquotcsl-bib-bodyquotstylequotline-height1.35quotgtnltdivclassquotcsl-entryquotstylequotclearleftquotgtnltdivclassquotcsl-left-marginquotstylequotfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.ltdivgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5emquotgtWakelingELBrioudeFLokulo-SodipeOOx2019ConnellSMSalemJBliekJetal.DiagnosisandmanagementofSilver-Russellsyndromefirstinternationalconsensusstatement.NatRevEndocrinolInternet.2017Febcited2017Sept2132105x201324.Availablefromltaclass039zp-ItemURL039href039httpwww.nature.comnrendojournalv13n2fullnrendo.2016.138.html039gthttpwww.nature.comnrendojournalv13n2fullnrendo.2016.138.htmlltagtltdivgtnltdivgtnltdivgtdataitemTypejournalArticletitleDiagnosisandmanagementofSilver-RussellsyndromefirstinternationalconsensusstatementcreatorscreatorTypeauthorfirstNameEmmaL.lastNameWakelingcreatorTypeauthorfirstNameFru00e9du00e9riclastNameBrioudecreatorTypeauthorfirstNameOluwakemilastNameLokulo-SodipecreatorTypeauthorfirstNameSusanM.lastNameOConnellcreatorTypeauthorfirstNameJenniferlastNameSalemcreatorTypeauthorfirstNameJetlastNameBliekcreatorTypeauthorfirstNameAnaP.M.lastNameCantoncreatorTypeauthorfirstNameKrystynaH.lastNameChrzanowskacreatorTypeauthorfirstNameJustinH.lastNameDaviescreatorTypeauthorfirstNameRenukaP.lastNameDiascreatorTypeauthorfirstNameBu00e9atricelastNameDuberncreatorTypeauthorfirstNameMiriamlastNameElbrachtcreatorTypeauthorfirstNameEloiselastNameGiabicanicreatorTypeauthorfirstNameAddalastNameGrimbergcreatorTypeauthorfirstNameKarenlastNameGru00f8nskovcreatorTypeauthorfirstNameAnitaC.S.lastNameHokken-KoelegacreatorTypeauthorfirstNameAlexanderA.lastNameJorgecreatorTypeauthorfirstNameMasayolastNameKagamicreatorTypeauthorfirstNameAgneslastNameLinglartcreatorTypeauthorfirstNameMohamadlastNameMaghniecreatorTypeauthorfirstNameKlauslastNameMohnikecreatorTypeauthorfirstNameDavidlastNameMonkcreatorTypeauthorfirstNameGudrunE.lastNameMoorecreatorTypeauthorfirstNamePhilipG.lastNameMurraycreatorTypeauthorfirstNameTsutomulastNameOgatacreatorTypeauthorfirstNameIsabelleOliverlastNamePetitcreatorTypeauthorfirstNameSilvialastNameRussocreatorTypeauthorfirstNameEdithlastNameSaidcreatorTypeauthorfirstNameMeropilastNameToumbacreatorTypeauthorfirstNameZeyneplastNameTu00fcmercreatorTypeauthorfirstNameGerhardlastNameBindercreatorTypeauthorfirstNameThomaslastNameEggermanncreatorTypeauthorfirstNameMadeleineD.lastNameHarbisoncreatorTypeauthorfirstNameI.KarenlastNameTemplecreatorTypeauthorfirstNameDeborahJ.G.lastNameMackaycreatorTypeauthorfirstNameIru00e8nelastNameNetchineabstractNoteThisConsensusStatementsummarizesrecommendationsforclinicaldiagnosisinvestigationandmanagementofpatientswithSilveru2013RussellsyndromeSRSanimprintingdisorderthatcausesprenatalandpostnatalgrowthretardation.ConsiderableoverlapexistsbetweenthecareofindividualsbornsmallforgestationalageandthosewithSRS.Howevermanyspecificmanagementissuesexistandevidencefromcontrolledtrialsremainslimited.SRSisprimarilyaclinicaldiagnosishowevermoleculartestingenablesconfirmationoftheclinicaldiagnosisanddefinesthesubtype.A039normal039resultfromamoleculartestdoesnotexcludethediagnosisofSRS.ThemanagementofchildrenwithSRSrequiresanexperiencedmultidisciplinaryapproach.Specificissuesincludegrowthfailureseverefeedingdifficultiesgastrointestinalproblemshypoglycaemiabodyasymmetryscoliosismotorandspeechdelayandpsychosocialchallenges.Anearlyemphasisonadequatenutritionalstatusisimportantwithawarenessthatrapidpostnatalweightgainmightleadtosubsequentincreasedriskofmetabolicdisorders.ThebenefitsoftreatingpatientswithSRSwithgrowthhormoneincludeimprovedbodycompositionmotordevelopmentandappetitereducedriskofhypoglycaemiaandincreasedheight.Cliniciansshouldbeawareofpossibleprematureadrenarchefairlyearlyandrapidcentralpubertyandinsulinresistance.Treatmentwithgonadotropin-releasinghormoneanaloguescandelayprogressionofcentralpubertyandpreserveadultheightpotential.Long-termfollowupisessentialtodeterminethenaturalhistoryandoptimalmanagementinadulthood.dateFebruary2017sectionpartNumberpartTitleDOI10.1038nrendo.2016.138citationKeyurlhttpwww.nature.comnrendojournalv13n2fullnrendo.2016.138.htmlPMIDPMCIDISSN1759-5029languageencollectionsVHQSI69MdateModified2026-07-15T224014Z
1.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol [Internet]. 2017 Feb [cited 2017 Sept 2];13(2):105–24. Available from: http://www.nature.com/nrendo/journal/v13/n2/full/nrendo.2016.138.html