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Pediatría Atención Primaria
versão impressa ISSN 1139-7632
Resumo
MARQUINA CINTORA, Sara et al. Joubert syndrome. Rev Pediatr Aten Primaria [online]. 2021, vol.23, n.90, pp.191-194. Epub 09-Maio-2022. ISSN 1139-7632.
Abstract
Joubert syndrome is a rare neurological disorder. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem. These abnormalities cause signs and symptoms that include abnormal breathing patterns, hypotonia and development delay. It may associate kidney, liver or eye abnormalities. Treatment is supportive and depends on the symptoms in each person. This is why early diagnosis is so important, to offer a multidisciplinary strategy for improving the prognosis and quality of life.
Palavras-chave : Cerebellum; Cystic fibrosis; Elastography; Joubert.