2012, Number 3
Russel-Silver syndrome. Case presentation
Language: Spanish
References: 15
Page:
PDF size: 272.55 Kb.
ABSTRACT
Background: Russell- Silver syndrome is a congenital ailing with specific characteristics like the restriction of prenatal and postnatal growth; they have a typical face and body asymmetry. It is a rare genetic disease with low prevalence which appears by fits and starts and is characterized by many dimorphic signs. Care presentation: A clinical case of a 2 year old child was reported, on physical examination he revealed physical characteristics compatible with this syndrome, an unsuitable samotrometry at 35 weeks gestation, relative macrocephaly due to craneumfacial disproportion, triangular face, facial and corporal asymmetry of the left hemicorpus and hemihypertrophia of this side. Conclusion: A diagnosis of the Russell-Silver syndrome was carried out due to clinical criteria present in the patient and prenatal antecedents.REFERENCES
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Russell A. A syndrome of intra uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionnated short arms and other anomalies. Proc R Soc Med. 1954 Dec; 47(12):1040-4. 4. Black J. Low birth weight dwarfism. Arch Dis Child 1961; 6: 633-644. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1919148/?page=1
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Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, et al. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat. 2011 Oct;32(10):1171-82 Available from: http://onlinelibrary.wiley.com/doi/10.1002/humu.21558/abstract?systemMessage=Wiley+Online+Library+will+be+disrup ted+on+15+December+from+10%3A00-12%3A00+GMT+%2805%3A00-07%3A00+EST%29+for+essential+maintenance
Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A. 2009 Nov;149A(11):2415-23. Available from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.33065/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted +on+15+December+from+10%3A00-12%3A00+GMT+%2805%3A00-07%3A00+EST%29+for+essential+maintenance
Weng HJ, Niu DM, Turale S, Tsao LI, Shih FJ, Yamamoto-Mitani N, et al. Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan. J Clin Nurs. 2012 Jan;21(1-2):160-9. Available from: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2702.2010.03583.x/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+on+15+December+from+10%3A00-12%3A00+GMT+%2805%3A00 -07%3A00+EST%29+for+essential+maintenance