Joubert Syndrome: Diagnostic Evaluation and Follow-up

Journal of Pediatric Neurology(2022)

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摘要
AbstractThe follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his family, regardless of the rarity and complexity of the disease, to obtain the highest possible degree of mental and physical health and autonomy.
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molar tooth sign,ciliopathies,developmental delay
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