Joubert Syndrome Presenting With Oculomotor Apraxia and Motor Developmental Delay: A Case Report From a Neuro-Ophthalmology Clinic in Saudi Arabia

Joubert syndrome is an autosomal recessive genetic disorder that was first described in 1969. It can present with neonatal respiratory distress, ocular motility abnormalities, developmental delays, and other congenital cerebellar malformations. It is also connected to autism, hydrocephalus, and duod...

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Detalles Bibliográficos
Autores principales: Mandura, Rahaf A, Arishi, Nawal A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8879619/
https://www.ncbi.nlm.nih.gov/pubmed/35228979
http://dx.doi.org/10.7759/cureus.21638

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8879619/
https://www.ncbi.nlm.nih.gov/pubmed/35228979
http://dx.doi.org/10.7759/cureus.21638

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