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

Abhay  Kumar; Avir  Sarkar; Manisha Meena; Jogender Kumar

doi:10.32553/ijmsdr.v4i12.731

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

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.

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

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Issue

Vol. 4 No. 12 (2020)

Section

Articles

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