ReviewMolecular syndromology2016
Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.
Review in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- Redox-Genomic Crosstalk: Linking Oxidative Stress, Sperm DNA Fragmentation, and Epigenetics in Personalized Management of Male Infertility.Journal of personalized medicine · 2026Review
- Colorectal cancer in a man with silver-Russell syndrome: a case report.Oxford medical case reports · 2025Article
- Article
- Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report.World journal of clinical cases · 2024Article
- Emerging role of non-coding RNA in health and disease.Metabolic brain disease · 2021Review
- The Role of Long Non-coding RNAs in Human Imprinting Disorders: Prospective Therapeutic Targets.Frontiers in cell and developmental biology · 2021Review
- Article
- Long QT and Silver Russell syndrome: First case report in a 9-year-old girl.HeartRhythm case reports · 2020Article
- Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.Journal of cutaneous pathology · 2020Article
- Preclinical and Clinical Epigenetic-Based Reconsideration of Beckwith-Wiedemann Syndrome.Frontiers in genetics · 2020Review
- Role of genomic imprinting in mammalian development.Journal of biosciences · 2020Review
- Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.American journal of human genetics · 2019Article
- The Neglected Insulin: IGF-II, a Metabolic Regulator with Implications for Diabetes, Obesity, and Cancer.Cells · 2019Review
- The role of long non-coding RNAs in the pathogenesis of hereditary diseases.BMC medical genomics · 2019Review
- Fetal growth restriction in a genetic model of sporadic Beckwith-Wiedemann syndrome.Disease models & mechanisms · 2018Article
- Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.Molecular syndromology · 2018Article
- Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report.Clinical case reports · 2018Article
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1 author at 1 institution in 1 country.
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Abstract
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital imprinting disorders. The expression of both syndromes usually depends on the parental origin of the chromosome in which the imprinted genes reside. SRS is characterized by severe intrauterine and postnatal growth retardation with various additional clinical features such as hemihypertrophy, relative macrocephaly, fifth finger clinodactyly, and triangular facies. BWS is an overgrowth syndrome with many additional clinical features such as macroglossia, organomegaly, and an increased risk of childhood tumors. Both SRS and BWS are clinically and genetically heterogeneous, and for clinical diagnosis, different diagnostic scoring systems have been developed. Six diagnostic scoring systems for SRS and 4 for BWS have been previously published. However, neither syndrome has common consensus diagnostic criteria yet. Most cases of SRS and BWS are associated with opposite epigenetic or genetic abnormalities in the 11p15 chromosomal region leading to opposite imbalances in the expression of imprinted genes. SRS is also caused by maternal uniparental disomy 7, which is usually identified in 5-10% of the cases, and is therefore the first imprinting disorder that affects 2 different chromosomes. In this review, we describe in detail the clinical diagnostic criteria and scoring systems as well as molecular causes in both SRS and BWS.
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