ArticleJournal of medical genetics2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 30 citations in OpenAlex.
- Diagnosis and management of Silver-Russell syndrome: second international consensus statement.Nature reviews. Endocrinology · 2026Review
- Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.Orphanet journal of rare diseases · 2026Article
- Gastrointestinal symptoms and quality of life in adults with Silver-Russell syndrome: a cross-sectional study.Archives of disease in childhood · 2026Article
- Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.Clinical epigenetics · 2025Article
- Colorectal cancer in a man with silver-Russell syndrome: a case report.Oxford medical case reports · 2025Article
- Transcriptome remodelling and changes in growth and cardiometabolic phenotype result following Grb10a knockdown in the early life of the zebrafish.Cellular and molecular life sciences : CMLS · 2025Article
- Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Observational
- Approach to the Patient With Suspected Silver-Russell Syndrome.The Journal of clinical endocrinology and metabolism · 2024Review
- A variant of uncertain significance of the HMGA2 gene in a child with Silver-Russell syndrome-like phenotype: a case report.Hormones (Athens, Greece) · 2024Article
- Review
- Prenatal diagnosis of a silver-russell syndrome caused by 11p15 duplication and pedigree analysis.Frontiers in genetics · 2024Article
- Fetal manipulation of maternal metabolism is a critical function of the imprinted Igf2 gene.Cell metabolism · 2023Article
- Imprinting disorders.Nature reviews. Disease primers · 2023Review
- Dyke-Davidoff-Masson Syndrome: A Case Report.Cureus · 2023Article
- Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.Frontiers in genetics · 2023Article
- Article
- Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.Clinical endocrinology · 2022Observational
- Review
- Article
- Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.Molecular diagnosis & therapy · 2022Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundSilver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%-10% have maternal uniparental disomy of chromosome 7. Most published research focuses on the childhood phenotype. Our aim was to describe the phenotypic characteristics of older patients with SRS.
methodsA retrospective cohort of 33 individuals with a confirmed molecular diagnosis of SRS aged 13 years or above were carefully phenotyped.
resultsThe median age of the cohort was 29.6 years; 60.6% had a height SD score (SDS) ≤-2 SDS despite 70% having received growth hormone treatment. Relative macrocephaly, feeding difficulties and a facial appearance typical of children with SRS were no longer discriminatory diagnostic features. In those aged ≥18 years, impaired glucose tolerance in 25%, hypertension in 33% and hypercholesterolaemia in 52% were noted. While 9/33 accessed special education support, university degrees were completed in 40.0% (>21 years). There was no significant correlation between quality of life and height SDS. 9/25 were parents and none of the 17 offsprings had SRS.
conclusionHistorical treatment regimens for SRS were not sufficient for normal adult growth and further research to optimise treatment is justified. Clinical childhood diagnostic scoring systems are not applicable to patients presenting in adulthood and SRS diagnosis requires molecular confirmation. Metabolic ill-health warrants further investigation but SRS is compatible with a normal quality of life including normal fertility in many cases.
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Registered trials
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