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

Revista Brasileira de Otorrinolaringologia

Bueno, Elaine C.¹  Martins, Regina H. G.¹  UNESP¹  Fioravanti, Marisa P.¹ 

关键词: Rubinstein-Taybi Syndrome;    otorhinolaryngology;    hearing loss;    mental retardation.;   

DOI  :  10.1590/S0034-72992003000300019

学科分类：医学（综合）

来源: Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervicofacial

【 摘 要 】

INTRODUCTION: 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 Rubinstein-Taybi 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 and learning disabilities.CONCLUSION: The presence of otolaryngologic and phonoaudiologic symptoms in patients with Rubinstein-Taybi Syndrome permit specialists to make early diagnoses and treatment.

【 授权许可】

Unknown