2012, Número 3
Síndrome Russel-Silver. Presentación de caso
Idioma: Español
Referencias bibliográficas: 15
Paginas:
Archivo PDF: 272.55 Kb.
RESUMEN
Fundamento: el síndrome de Russell- Silver es un padecimiento congénito con características específicas como restricción del crecimiento prenatal y/o posnatal, una face típica y asimetría corporal. Es una enfermedad genética rara y de baja prevalencia, que aparece esporádicamente y se caracteriza por múltiples signos dismórficos. Presentación del caso: se informa el caso clínico de un niño de dos años, quien reveló al examen clínico características físicas compatibles con el síndrome, una somatometría inadecuada a la edad gestacional (35 semanas), macrocefalia relativa debido a desproporción craneofacial, cara triangular, asimetría facial y corporal del hemicuerpo izquierdo y hemihipertrofia de ese lado. Conclusiones: se hizo el diagnóstico del síndrome de Russell-Silver basado en los criterios clínicos presentes en el paciente y los antecedentes prenatales.REFERENCIAS (EN ESTE ARTÍCULO)
Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins. Pediatrics. 1953 Oct;12(4):368-76. Available from: http://preview.ncbi.nlm.nih.gov/pubmed?term=Syndrome%20of%20congenital%20hemihypertrophy%2C%20shortness% 20of%20stature%2C%20and%20elevated%20urinary%20gonadotrophins.%20Pediatric%201953
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
Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, et al. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.Hum Mol Genet. 2009 Dec 15;18(24):4724-33. Available from: http://hmg.oxfordjournals.org/content/18/24/4724.long
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