Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics-Reference-Cited by-同舟云学术

Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics

Published:2022-12-05 Issue:01 Volume:21 Page:058-061
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Cuppari Caterina¹,Salpietro Annamaria²,Chimenz Roberto³^ORCID,Colavita Laura¹,Ceravolo Maria Domenica¹,Gitto Eloisa⁴,Sallemi Alessia¹,Fusco Monica¹,Ceravolo Ida⁵,Farello Giovanni⁶,Iapadre Giulia⁷,Rocca Clarissa⁸,Salazar Ainara⁸,Mancuso Alessio¹

Affiliation:

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

2. Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy

3. Faculty of Medicine and Surgery, University of Messina, Messina, Italy

4. Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age Gaetano Barresi, University of Messina, Messina, Italy

5. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

6. Pediatric Clinic, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila (AQ), Italy

7. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

8. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom

Abstract

AbstractJoubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with orofacial anomalies and often polydactyly. The most severe variant is the OFD type VI (Varadi-Papp syndrome) in which there are tongue hamartomas, multiple frenula, midline notch of the upper lip, mesoaxial polydactyly, and hypothalamic hamartomas. Treatments are symptomatic and supportive with reconstructive surgery for correctable malformation and physical therapy, occupational therapy, speech therapy, and infant stimulation for mental delay.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1759516.pdf

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