RHOMBENCEPHALOSYNAPSIS: A CASE SERIES.
- Resource Type
- Article
- Authors
- Aslam, Maryam; Rehman, Imaad
- Source
- Pakistan Journal of Radiology. Jul-Sep2023, Vol. 33 Issue 3, p159-162. 4p.
- Subject
- *JOUBERT syndrome
*AGENESIS of corpus callosum
*CHILD patients
*INTELLECTUAL disabilities
*SYMPTOMS
*CONGENITAL disorders
- Language
- ISSN
- 1607-2006
Rhombencephalosynapsis(RES) is a very rare congenital cerebellar anomaly with limited number of cases reported worldwide. It is characterised by partial or complete agenesis of cerebellar vermis with variable cerebellar hemisphere fusion. Resultant clinical presentation is highly variable ranging from delayed developmental milestones to cognitive and intellectual impairment. This article reports a case series of two child patients presenting with intellectual disability and delayed milestones. [ABSTRACT FROM AUTHOR]