abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...

A 5 year old female child from a well-monitored, full term pregnancy with no specific history of ataxia, hypotonia and global developmental delay.

how to cite this article: barzegar m, malaki m, sadegi-hokmabadi e. joubert syndrome with variable features: presentation of two cases. iran j child neurol. 2013  spring;7(2):43-46.   abstract joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. we present two cases of this sy...

We report prenatal and neonatal neuroimaging findings in a case of oral-facial-digital syndrome type VI (OFDS VI). Prenatal MR imaging at 29 weeks' gestation showed hypoplastic cerebellar vermis and hemispheres, the molar tooth sign, and a hypothalamic hamartoma. Neonatal MR imaging confirmed these findings. The neonate developed breathing abnormalities and exhibited frontal bossing, multiple b...

The molar tooth sign is seen in very few conditions and is a very rare paediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome this is seen in about 85% of patients. We present a case of 13 months old baby boy with r...