Ataxia, global developmental delay and speech deficits.
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Aplasia or severe hypoplasia of the cerebellar vermis.
Abnormal posterior fossa with bat wing configuration of the 4th ventricle and molar tooth appearance of the midbrain due to prominently thickened and elongated superior cerebellar peduncles.
Joubert's syndrome, cerebellar vermian aplasia or molar tooth midbrain malformation is a rare autosomal recessive disorder with aplasia of the superior cerebellar vermis presenting with ataxia, nystagmus and delayed motor development. Other associated anomalies in Joubert syndrome related disorders (JSRD) may include retinal coloboma and multicystic kidney disease.
- Karakas E, Cullu N, Karakas O et-al. Joubert syndrome: the clinical and radiological findings. J Pak Med Assoc. 2014;64 (1): 91-4. Pubmed citation
- Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol. 2013;16 (2): 239-44. doi:10.4103/0972-2327.112480 - Free text at pubmed - Pubmed citation