CHILD WITH MILLER-DIEKER SYNDROME SURVIVING MORE THAN A DECADE: RARE INSTANCE IN LITERATURE

Authors

  • Abhay Kumar Junior Resident, Department of Obstetrics and Gynecology, PGIMER, Chandigarh
  • Avir Sarkar Junior Resident, Department of Obstetrics and Gynecology, PGIMER, Chandigarh
  • Manisha Meena Assistant Professor, Department of Obstetrics and Gynecology, PGIMER, Chandigarh
  • Jogender Kumar Assistant Professor, Department of Pediatrics, PGIMER, Chandigarh

DOI:

https://doi.org/10.32553/ijmsdr.v4i12.731

Abstract

Miller Dieker Syndrome (MDS) is characterized by abnormal brain development and lissencephaly. As a result, babies have severe intellectual disability, developmental delay, multiple seizures and hypotonia. Characteristic facial features and mental retardation is indicative of a karyotypic evaluation. Microdeletion of chromosome 17p13.3 confirms the diagnosis. Management includes genetic counselling, frequent medical check-up, palliative treatment with physiotherapy and seizure control.

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Published

2020-12-24

How to Cite

Kumar, A. ., Sarkar, A. ., Manisha Meena, & Jogender Kumar. (2020). CHILD WITH MILLER-DIEKER SYNDROME SURVIVING MORE THAN A DECADE: RARE INSTANCE IN LITERATURE. International Journal of Medical Science And Diagnosis Research, 4(12). https://doi.org/10.32553/ijmsdr.v4i12.731

Issue

Vol. 4 No. 12 (2020)

Section

Articles