Joubert syndrome; misleading presentation of two cases as pseudo-tumor cerebri and literature review

Joubert syndrome is a rare autosomal recessive disorder that may have different clinical presentation such as ataxia, hyperpnea, sleep apnea, nystagmus, hypotonia, seizure and retinitis pigmentosa. We present a 22-year-old girl and her older sibling, labeled as cerebral palsy. She had renal transpla...

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Detalles Bibliográficos
Autores principales: Seylanian Toosi, Farrokh, Boloursaz, Samineh, Abbasi, Bita, Hekmat, Reza, Mortazavi Ardestani, Reihaneh, Mohajerzadeh, Mina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nickan Research Institute 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423287/
https://www.ncbi.nlm.nih.gov/pubmed/28497078
http://dx.doi.org/10.15171/jrip.2017.14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423287/
https://www.ncbi.nlm.nih.gov/pubmed/28497078
http://dx.doi.org/10.15171/jrip.2017.14

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