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Artigo Acesso aberto Produção Nacional Revisado por pares
BIBTEX RIS

Central nervous system abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

2010; Thieme Medical Publishers (Germany); Volume: 68; Issue: 1 Linguagem: Inglês

10.1590/s0004-282x2010000100021

ISSN

1678-4227

Autores

Rafael Fabiano Machado Rosa, Carla Graziadio, René Lenhardt, Ronnie Peterson Marcondes Alves, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen,

Tópico(s)

Ocular Disorders and Treatments

Resumo

To describe the central nervous system (CNS) alterations present in a sample of oculo-auriculo-vertebral spectrum (OAVS) patients, trying to correlate them with other clinical features.Seventeen patients with diagnosis of OAVS were evaluated. All presented radiological evaluation of the CNS, normal GTG-Banding karyotype and clinical features involving at least two from the four following areas: oro-cranio-facial, ocular, auricular and vertebral.CNS alterations were verified in eight from seventeen patients (47%). Diffuse cerebral hypoplasia, dilated lateral cerebral ventricles (asymptomatic hydrocephalus), corpus callosum dysgenesis and frontal hypodensities were the most frequent abnormalities. Presence of ophthalmologic abnormalities was the only clinical association observed, being significantly more frequent among patients with cerebral alterations (63% versus 11%).CNS abnormalities are frequent in patients with OAVS, especially in carriers of ophthalmologic alterations. However, the absence of detectable cerebral abnormalities did not exclude the possibility that these subjects will subsequently present neurological symptoms.

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