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.
Russell-Silver Syndrome; Genetics; Cognition; Language
