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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2022
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| 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 |