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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
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Ida Ceravolo
2   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Alessio Mancuso
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Giovanni Farello
3   Pediatric Clinic–Department of Life, Health and Environmental Sciences–Piazzale Salvatore, Coppito (AQ), Italy
,
Giulia Iapadre
4   Department of Pediatrics, University of L'Aquila, Via Vetoio, L'Aquila, Italy
,
Luca Zagaroli
4   Department of Pediatrics, University of L'Aquila, Via Vetoio, L'Aquila, Italy
,
Giuliana Nanni
4   Department of Pediatrics, University of L'Aquila, Via Vetoio, L'Aquila, Italy
,
Maria Domenica Ceravolo
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
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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

Author Contributions

Conceptualization: C. C.


Investigation: C. C., I. C.


Resources: E. G.


Data curation: A. M., G. N.


Writing - original draft preparation: G. F.


Writing - review and editing: G. I., M. D. C.


Supervision: L. Z.


All authors have read and agreed to the published version of the manuscript.


Data Availability Statement

The data presented in this study are available on request from the corresponding author.




Publication History

Received: 22 August 2022

Accepted: 27 October 2022

Article published online:
26 December 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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