A report of Joubert syndrome in an infant, with literature review

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenot...

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Detalles Bibliográficos
Autores principales: Singh, Paramdeep, Goraya, Jatinder S., Saggar, Kavita, Ahluwalia, Archana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173915/
https://www.ncbi.nlm.nih.gov/pubmed/21977088
http://dx.doi.org/10.4103/1817-1745.84407

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173915/
https://www.ncbi.nlm.nih.gov/pubmed/21977088
http://dx.doi.org/10.4103/1817-1745.84407

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