Clinical and genetic diagnosis and management of Silver-Russell syndrome:Report of four cases  

作　　者：Ilektra Toulia Parthena Savvidou Athina Ververi Maria G Grammatikopoulou Konstantina Kosta Vaya Tziaferi Charalampos Antachopoulos Dimitrios G Goulis Alexandros Sotiriadis Kyriaki Tsiroukidou 

机构地区：[1]Endocrine Unit,3rd Pediatric Department,Hippokration General Hospital,Aristotle University of Thessaloniki,Thessaloniki GR-54124,KentrikíMakedonía,Greece [2]Department of Genetics for Rare Diseases,Papageorgiou General Hospital,Thessaloniki GR-54124,KentrikíMakedonía,Greece [3]Immunonutrition Unit,Department of Rheumatology&Clinical Immunology,University of Thessaly,Larissa University Hospital,Larissa GR-41223,Thessalía,Greece [4]Pediatric Endocrinology Clinic,Thessaloniki GR-55535,KentrikíMakedonía,Greece [5]3rd Department of Pediatrics,Hippokration General Hospital,Aristotle University of Thessaloniki,Thessaloniki GR-54124,KentrikíMakedonía,Greece [6]First Department of Obstetrics and Gynecology,Medical School,Papageorgiou General Hospital,Aristotle University of Thessaloniki,Thessaloniki GR-54601,KentrikíMakedonía,Greece [7]2nd Department of Obstetrics and Gynecology,Aristotle University of Thessaloniki,Hippokration General Hospital,Thessaloniki GR-54124,Greece

出　　处：《World Journal of Clinical Pediatrics》2025年第2期205-213,共9页世界临床儿科杂志(英文)

摘　　要：BACKGROUND Silver-Russell syndrome(SRS)is a clinically heterogeneous entity characterized by intrauterine and postnatal growth restriction,relative macrocephaly at birth,distinct facial features,and body asymmetry combined with other malformations.CASE SUMMARY Herein,we describe four individuals with SRS,focusing on their prenatal phenotype,postnatal presentation,diagnosis,and management.All cases had a typical phenotype,including postnatal growth failure,short stature(chronic malnutrition),and protruding forehead.Individually,they presented with feeding difficulties,leg length discrepancy,triangular face,or relative macrocephaly at birth,and each one exhibited distinct SRS features,including motor and/or speech delay,experiencing frequent hypoglycemic episodes.The fact that each patient exhibited a different combination of clinical findings underlines the heterogeneity of the syndrome.CONCLUSION SRS is diagnosed clinically.However,only 60%of cases are genetically confirmed,while most are sporadic.Although SRS is a well-described syndrome,a delayed diagnosis can have grave consequences on a child’s growth.Recombinant human growth hormone treatment is often initiated shortly after the diagnosis.The follow-up requires a multidisciplinary approach.

关 键 词：Acute malnutrition Fetal growth restriction Growth disorder Imprinting disorders Intrauterine growth restriction Limb asymmetry Short stature Case report 

分 类 号：R73[医药卫生—肿瘤]