Joubert Syndrome: Diagnostic Evaluation and Follow-up

Caterina Cuppari; Ida Ceravolo; Alessio Mancuso; Giovanni Farello; Giulia Iapadre; Luca Zagaroli; Giuliana Nanni; Maria Domenica Ceravolo

doi:10.1055/s-0042-1759532

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2023; 21(01): 053-057
DOI: 10.1055/s-0042-1759532

Review Article

Joubert Syndrome: Diagnostic Evaluation and Follow-up

Caterina Cuppari

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Ida Ceravolo

²Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

,

Alessio Mancuso

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

,

Giovanni Farello

³Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore, Coppito (AQ), Italy

,

Giulia Iapadre

⁴Department of Pediatrics, University of L'Aquila, Via Vetoio, L'Aquila, Italy

,

Luca Zagaroli

⁴Department of Pediatrics, University of L'Aquila, Via Vetoio, L'Aquila, Italy

,

Giuliana Nanni

⁴Department of Pediatrics, University of L'Aquila, Via Vetoio, L'Aquila, Italy

,

Maria Domenica Ceravolo

¹Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

› Author Affiliations

Abstract

The 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.

Keywords

molar tooth sign - ciliopathies - developmental delay

Full Text

References

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