Citation, DOI, disclosures and article data
Citation:
Radswiki T, Bell D, Tatco V, et al. Russell-Silver dwarfism. Reference article, Radiopaedia.org (Accessed on 08 May 2024) https://doi.org/10.53347/rID-14663
Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism.
Associations
It is considered a type of primordial dwarfism.
Genetics
Most cases are sporadic 7. Genetic and epigenetic disturbances may be detected in approximately 50% of patients with classic features. Hypomethylation of the imprinting in chromosome 11p15 is considered a major epigenetic disturbance. Maternal uniparental disomy (mUPD) of chromosome 7 can account for 10% of cases 3.
Antenatal ultrasound
Individual sonographic features are non-specific. Fetal biometric parameters may show shortened fetal long bones.
Other features that may be detected sonographically include:
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Treatment and prognosis
Prognosis is generally favorable.
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1. Wax JR, Burroughs R, Wright MS. Prenatal sonographic features of Russell-Silver syndrome. J Ultrasound Med. 1996;15 (3): 253-5. J Ultrasound Med (citation) - Pubmed citation
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2. Falkert A, Dittmann K, Seelbach-göbel B. Silver-Russell syndrome as a cause for early intrauterine growth restriction. Prenat. Diagn. 2005;25 (6): 497-501. doi:10.1002/pd.1180 - Pubmed citation
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3. Abu-amero S, Monk D, Frost J et-al. The genetic aetiology of Silver-Russell syndrome. J. Med. Genet. 2008;45 (4): 193-9. doi:10.1136/jmg.2007.053017 - Pubmed citation
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4. Eggermann T, Gonzalez D, Spengler S et-al. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. Pediatrics. 2009;123 (5): e929-31. doi:10.1542/peds.2008-3228 - Pubmed citation
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5. Rossignol S. Silver-Russell syndrome and its genetic origins. J. Endocrinol. Invest. 2006;29 (1 Suppl): 9-10. - Pubmed citation
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6. Eggermann T, Begemann M, Binder G et-al. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis. 2010;5 : 19. doi:10.1186/1750-1172-5-19 - Free text at pubmed - Pubmed citation
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7. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
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