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2012, Número 3

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Gaceta Médica Espirituana 2012; 14 (3)


Síndrome Russel-Silver. Presentación de caso

Cirera DY, Pérez GC, García PL, Bozán FI
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Idioma: Español
Referencias bibliográficas: 15
Paginas:
Archivo PDF: 272.55 Kb.


PALABRAS CLAVE

síndrome Russell-Silver, hemihipertrofia, crecimiento.

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)

  1. 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

  2. Silver HK. Asymetry, short stature, and variations in sexual development. Asyndrome of congenital malformatios. Am J Dis Child. 1964 May; 107:495-515. Available from: http://preview.ncbi.nlm.nih.gov/pubmed/14120415

  3. 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

  4. Price SM, Stanhope R, Garret C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet. 1999 Nov; 36(11):837-42. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734267/

  5. Eggermann T. Russell-Silver syndrome. Am J Med Genet C Semin Med Genet. 2010 Aug ;154C(3):355-64 Available from: http://preview.ncbi.nlm.nih.gov/pubmed/20803658

  6. 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

  7. 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

  8. Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, et al. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 2002 Feb; 79(2):186-96. Available from: http://www.sciencedirect.com/science/article/pii/S0888754302966954

  9. 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

  10. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE.The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. Available from: http://jmg.bmj.com/content/45/4/193.long

  11. Azcona C, Stanhope R. Hypoglycaemia and Russell-Silver syndrome. J Pediatr Endocrinol Metab. 2005 Jul; 18(7):663-70. Available from: http://preview.ncbi.nlm.nih.gov/pubmed?term=Journal%20of%20Pediatric%20Endocrinology%2C%20Hypoglycaemia%20and%20Russell-Silver%20Syndrome

  12. Eggermann T, Buiting K, Temple IK. Clinical utility gene card for: Silver-Russell syndrome. Eur J Hum Genet. 2011 Mar; 19(3). Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061987/

  13. Eggermann T, Eggermann K, Schönherr N. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 2008 Apr; 24(4):195-204. Available from: http://www.sciencedirect.com/science/article/pii/S0168952508000541

  14. Hiroshi Sasaki, Torn Momoi, Hirohiko Sano, Chutaro Yamanaka, et al. Growth Hormone treatment Does Not Improve Prepuberal Growth in Russell Silver Syndrome. J Pediatr Endocrinol. 1991; 4(4).

  15. 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




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