Cargando…
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...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nickan Research Institute
2016
|
| Materias: | |
| 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 |