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

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.

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Publication Details

Journal
World Journal of Clinical Pediatrics
Published
2025-03-18
DOI
https://doi.org/10.5409/wjcp.v14.i2.100330
Primary Topic
Genetic Syndromes and Imprinting
Type
article
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article

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

Athina Ververi, Charalampos Antachopoulos, Ilektra Toulia, Dimitrios G. Goulis et al.
World Journal of Clinical Pediatrics
Genetic Syndromes and Imprinting
article

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

Athina Ververi, Charalampos Antachopoulos, Ilektra Toulia, Dimitrios G. Goulis, Kyriaki Tsiroukidou, K Kośta, Alexandros Sotiriadis, Maria G Grammatikopoulou, Parthena Savvidou, Vaya Tziaferi
article en

Abstract

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.

World Journal of Clinical PediatricsVol. 14(2)
University of Thessaly (GR), University of Macedonia (GR), Aristotle University of Thessaloniki (GR), Papageorgiou General Hospital (GR), University Hospital of Larissa (GR), Ippokrateio General Hospital of Thessaloniki (GR), Hippocration General Hospital (GR)
Openalex Percentile: Top 94%
Genetic Syndromes and Imprinting
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Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases — Athina Ververi, Charalampos Antachopoulos, et al. · World Journal of Clinical Pediatrics (2025) | TGRS Research Map | TGRS