Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cran...

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Detalles Bibliográficos
Autores principales: Gill, Harjinder, Muthusamy, Brinda, Atan, Denize, Williams, Cathy, Ellis, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350021/
https://www.ncbi.nlm.nih.gov/pubmed/22606509
http://dx.doi.org/10.1155/2011/262641

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350021/
https://www.ncbi.nlm.nih.gov/pubmed/22606509
http://dx.doi.org/10.1155/2011/262641

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