Síndrome de rubinstein-taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

Rev Bras Otorrinolaringol.
V.69, n.3, 427-31, mai./jun. 2003

RELATO DE CASO

CASE REPORT

Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

Rubinstein-Taybi Syndrome: physical anomalies, clinical and audiologic evaluation

Regina H. G. Martins1, Elaine C. Bueno2,
Elaine
Marisa P. Fioravanti 3

Palavras-chave: Síndrome de Rubinstein-Taybi, otorrinolaringologia, surdez, retardo mental.
Key words: Rubinstein-Taybi Syndrome, otorhinolaryngology, hearing loss, mental retardation.

Resumo / Summary

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ntroduction: ntroduction The Rubinstein-Taybi Syndrome was first described in 1963 when the authors presented seven children with mental and growth retardation, broad thumbs and big toes, associated to face anomalies. Years later new publications characterized other physical anomalies. The incidence in the general population is one in 300.000 borns and the aetiology is unknown until now. The purpose of this study was to present the clinical manifestations, physical anomalies and the audiologic evaluation of five children with Rubinstein-Taybi
Syndrome. Report of Cases: Five children with RubinsteinTaybi Syndrome were evaluated by main clinical manifestations, physical anomalies and audiologic evaluation. The main clinical and physical manifestations were: mental retardation, short stature, short and broad fingers, beaked nose, high palate, irregular placement of teeth and poor speech development.
The auditory acuity was evaluated by tonal audiometry, tympanometry and auditory brainstem response (ABR).
Discussion: The physical characteristics presented by the patients with Rubinstein-Taybi Syndrome facilitate the diagnosis and are responsible for otolaryngological and phonoaudiological symptoms, like airway infections, nasal obstruction, otitis media, tonsillar hyperplasia, deafness, perioral hypotonia and dysphagia. The cognitive impairment is responsible to speech
delay