Síndrome de Silver-Russell: relato de caso
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Data
2006-12-01
Autores
Rossi, Natalia Freitas [UNESP]
Ueda, Kelly Hitomi
Richieri-Costa, Antonio
Giacheti, Célia Maria [UNESP]
Título da Revista
ISSN da Revista
Título de Volume
Editor
CEFAC Saúde e Educação
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-Russel. 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.
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. CONCLUSIONS: 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.
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. CONCLUSIONS: 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.
Descrição
Palavras-chave
Síndrome de Silver-Russell, Genética, Cognição, Linguagem, Russell-Silver Syndrome, Genetics, Cognition, Language
Como citar
Revista CEFAC. CEFAC Saúde e Educação, v. 8, n. 4, p. 548-556, 2006.