Síndrome de Silver-Russell: relato de caso
Silver-Russell Syndrome: case report
Natalia Freitas Rossi; Kelly Hitomi Ueda; Antonio Richieri-Costa; Célia Maria Giacheti
Resumo
Objetivo: descrever o fenótipo da síndrome de Silver-Russell (SSR) e apresentar um caso diagnosticado com esta afecção genética, abordando aspectos genéticos, psicológicos e fonoaudiológicos.
Métodos: trata-se de relato de caso de uma criança do gênero feminino, sete anos e onze meses, portadora da síndrome de Silver-Russell. Foram realizadas avaliação genética médica e molecular, avaliação psicológica, avaliação fonoaudiológica e aplicação de testes complementares.
Resultados: a análise molecular da região 7p11 excluiu a dissomia uniparental para este caso. No exame físico foram constatados os principais sinais clínicos da SSR que incluiu retardo no crescimento de origem pré-natal, fácies típica, assimetrias ósseas e clinodactilia do 5º dedo. A avaliação cognitiva e fonoaudiológica mostraram deficiência mental, distúrbio de linguagem oral e comprometimento das funções orais.
Conclusão: o estudo deste caso possibilitou a divulgação do fenótipo da SSR com suas manifestações físicas, cognitivas e fonoaudiológicas. Embora o teste molecular não tenha confirmado um dos possíveis mecanismos etiológicos da síndrome, a avaliação genética médica constatou a presença dos principais sinais clínicos que foram correlacionados à literatura. A avaliação psicológica e fonoaudiológica apontaram para comprometimento cognitivo e de comunicação, funções orais, sugerindo que importantes alterações fonoaudiológicas podem fazer parte do fenótipo desta síndrome, ainda pouco difundida para fonoaudiólogos.
Palavras-chave
Abstract
Purpose: to describe Silver-Russell syndrome (SRS) phenotype and report a case with this condition, concerning genetics, psychological and speech/language and oral function evaluation.
Methods: we will submit the case of a girl, seven years and eleven months with Silver-Russell syndrome. Medical genetic evaluation, molecular test, psychological and speech/language evaluation was done. Complementary tests were applied.
Results: molecular test excluded a maternal uniparental disomy (UPD) of chromosome 7 in this case. In physical examination identified the most important signs of SSR phenotype that included prenatal growth retardation, typical face, skeletal asymmetry, and fifth finger clinodactily. Cognitive and speech language evaluation showed mental retardation, speech/language and oral functions disorders.
Conclusion: the study of this case allowed for spreading the phenotype of SRS with its physical manifestations, cognitive, language and oral functions disorders. Although the molecular test has not confirmed one of the possible etiological mechanisms of the syndrome, the medical genetic evaluation evidenced the presence of the main signals that had been correlated to literature. The psychological and speech/language evaluation pointed out to cognitive, communication impairment and oral functions disorders suggesting that these findings can be part of phenotype for this syndrome, still little known among speech-pathologists.
Keywords
Referências
1. Silver HK. Asymmetry, short stature, and variations in sexual development: a syndrome of congenital malformations. Am J Dis Child. 1964; 107:495-515.
2. Russell A. A syndrome of "intra-uterine dwarfism" recognisable at birth with craniofacial dysostosis, disproportionately short arms and other abnormalities. Proc Royal Soc Med. 1954; 47:1040-4.
3. Tanner JM, Ham TJ. Low birthweight dwarfism with asymmetry (Silver's syndrome): treatment with human growth hormone. Arch Dis Child. 1969; 44(234):231-43.
4. Tanner JM, Lejarraga H, Cameron N. The natural history of the Silver-Russell syndrome: a longitudinal study of thirty-nine cases. Pediatr Res. 1975; 9(8):611-23.
5. Duncan PA, Hall JG, Shapiro LR, Vilbert BK. Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet. 1990; 35(2):245-50.
6. Bailey W, Popovich B, Jones KL. Monozygotic twins discordant for the Russell-Silver syndrome. Am J Med Genet. 1995; 58(2):101-5.
7. Eggermann T, Meyer E, Obermann C, Heil I, Schuler H, Ranke MB, et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet. 2005; 42(5):e26.
8. Rossignol S. Silver-Russell syndrome and its genetic origins. J Endocrinol Invest. 2006; 29(1Suppl):9-10.
9. Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, et al. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet. 2002; 111(4):405-8.
10. Ramirez-Duenas ML, Medina C, Ocampo-Campos R, Rivera H. Severe Silver-Russell syndrome and translocation (17;20) (q25;q13). Clin Genet. 1992; 41(1):51-3.
11. Midro AT, Debek K, Sawicka A, Marcinkiewicz D, Rogowska M. Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet. 1993; 44(1):53-5.
12. Dorr S, Thompson E, Allanson J, Baraitser M. Constructions of detailed physical and transcription mao of the candidate region for Russell-Silver syndrome on chromosome 17q23-24. Genomics. 2001; 71:174-84.
13. Hitchins MP, Stanier P, Preece MA, Moore GE. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet. 2001; 38(12):810-9.
14. Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet. 1997; 100(3-4):415-9.
15. Price SM, Stanhope R, Garrett 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; 36(11):837-42.
16. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet. 1999; 105(3):273-80.
17. Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S et al. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet. 2002; 111(4-5):376-87.
18. Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, et al. Duplication of 7p11.2-p13, including GRB10 in Silver-Russell syndrome. Am J Hum Genet. 2000; 66(1):36-46.
19. Miyoshi N, Kuroiwa Y, Kohda T, Shitara H, Yonekawa H, Kawabe T, et al. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc Natl Acad Sci U S A. 1998; 95(3):1102-7.
20. Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, et al. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. Eur J Hum Genet. 2001; 9(2):82-90.
21. Charalambous M, Smith FM, Bennett WR, Crew TE, Mackenzie F, Ward A. Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism. Proc Natl Acad Sci U S A. 2003; 100(14):8292-7.
22. Lim MA, Riedel H, Liu F. Grb10: more than a simple adaptor protein. Front Biosci 2004; 9:387-403.
23. Prager S, Wollmann HA, Mergenthaler S, Mavany M, Eggermann K, Ranke MB, et al. Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25. Genet Test. 2003; 7(3):259-63.
24. Al-Fifi S, Teebi AS, Shevell M. Autosomal dominant Russell-Silver syndrome. Am J Med Genet. 1996; 61(1):96-7.
25. Duncan PA, Hall JG, Shapiro LR, Vibert BK. Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet. 1990; 35(2):245-50.
26. Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, et al. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet. 1997; 34(1):6-9.
27. Johnson AW, Mokuolo OA. Russell-Silver syndrome in a nigerian infant with intrauterine growth retardation. J Natl Med Assoc. 2001; 93(5):185-94.
28. Faker A, Dittmann k, Seelbach-Gobel B. Silver-Russell syndrome as a cause for early intrauterine growth restriction. Prenat Diagn. 2005; 25(6):497-501.
29. Lai KY, Skuse D, Stanhope R, Hindmarsh P. Cognitive abilities associated with Silver-Russell syndrome. Arch Dis Child. 1994; 71(6):490-6.
30. Vargas FR. A criança com baixa estatura. In: Carakushansky J. Doenças genéticas em pediatria. Rio de Janeiro: Koogan; 2001. p. 307-8.
31. Salgado CA, Sassi A, Capellini AS, Tabaquim MLM, Ciasca SM. Avaliação neuropsicológica e fonoaudiológica na Síndrome de Silver-Russell: estudo de caso. Anais da 8ª. Jornada Fonoaudiológica "Profª. Draª. Kátia de Freitas Alvarenga". Set 29-30. Bauru; Faculdade de Odontologia de Bauru. p. 60.
32. Noeker M, Wollmann HA. Cognitive development in Silver-Russell syndrome: a sibling-controlled study. Dev Med Child Neurol. 2004; 46(5):340-6.
33. Parker B. Russell-Silver syndrome. [on line]. Disponível em: URL: http://www.people.unt.edu/~bsp0002/rss.htm
34. Wechesler D. Teste de inteligencia para niños WISC III: manual. Buenos Aires: Paidós; 1994.
35. Bogossian MAD, Santos MJ. Manual do examinador: teste de habilidades psicolingüísticas. Rio de Janeiro: EMPSI; 1977.
36. Brasil. Conselho Nacional de Saúde. Diretrizes e normas regulamentadoras de pesquisas envolvendo seres humanos: resolução 196/96. Brasília: Conselho Nacional de Saúde; 1996.
37. Northern JLE, Downs MP. Hearing in children. 3. ed. Baltimore: Williams Wikins; 1984.
38. Yavas M, Hernandorena CLM, Lamprech RP. Avaliação fonológica da criança. Porto Alegre: Artes Médicas; 1992.
Submetido em:
05/07/2006
Aceito em:
22/09/2006
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