Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum


  • Basmah Alomrani Department of Biological Science, King Abdul-Aziz University, Jeddah, Saudi Arabia.
  • Murid Javed Originelle Fertility Clinic and Women's Health Centre, Ottawa, Canada.
  • Hani S. H. Mohammed Ali Department of Biological Science, King Abdul-Aziz University, Jeddah, Saudi Arabia; Princess Dr. Najla Bent Saud Al-Saud Center for Excellence Research in Biotechnology, King Abdul-Aziz University, Jeddah, Saudi Arabia.
  • Salah E. M. Abo-Aba Department of Biological Science, King Abdul-Aziz University, Jeddah, Saudi Arabia; Princess Dr. Najla Bent Saud Al-Saud Center for Excellence Research in Biotechnology, King Abdul-Aziz University, Jeddah, Saudi Arabia.
  • Albandary AlBakheet Department of Genetics, King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.
  • Hanan Alqudairy Department of Genetics, King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.
  • Namik Kaya Department of Genetics, King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.



Central Nervous System, Corpus Callosum, Diagnosis


The pathological processes of the central nervous system, intrinsic or extrinsic, occurring during the embryonic period are the most common cause of pregnancy termination. The defects of the neural tube which is primitive form of brain and spinal cord are the most common central nervous system (CNS) malformations. In some defects the fetus continues to develop and results in the birth of a child with sever mental and physical deficiencies. The corpus callosum is the largest white matter tract connecting the two cerebral hemispheres and permits the transfer of information between the two cerebral hemispheres.  Its partial or complete agenesis is caused by abnormalities during embryonic development. The severity of symptoms varies widely depending on the degree of dysgenesis. Hypotonia, visual impairment, seizures, spasticity, motor co-ordination issues, and atypical facial features are common symptoms. In this review we focus on genetic causes, clinical manifestations and diagnosis of various malformations of central nervous system with special emphasis on Corpus Callosum.


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How to Cite

Alomrani, B. ., Javed, M. ., Mohammed Ali , H. S. H. ., Abo-Aba, S. E. M. ., AlBakheet, A. ., Alqudairy, H. ., & Kaya, N. . (2022). Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum. Journal of Contemporary Medical Sciences, 8(1), 1–17.

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