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Corpus Callosum Agenesis/Dysgenesis

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Atlas of Genetic Diagnosis and Counseling
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The corpus callosum is an interhemispheric structure that permits the integration of motor, sensory, and cognitive performance between the two cerebral hemispheres. Agenesis/dysgenesis of the corpus callosum is among the most common brain developmental malformation with a wide spectrum of associated clinical and pathologic abnormalities. The prevalence and clinical significance are uncertain. It is estimated to be 0.3–0.7% in the general population and 2–3% in the developmentally disabled (Jeret et al. 1985).

Synonyms and Related Disorders

Agenesis of corpus callosum; Dysgenesis of corpus callosum

Genetics/Basic Defects

  1. 1.

    Markedly heterogeneous etiology of agenesis/dysgenesis of the corpus callosum (Dobyns 1996)

    1. a.

      Sporadic in most cases

    2. b.

      Environmental factors

      1. i.

        Alcoholism

      2. ii.

        Maternal rubella

      3. iii.

        Maternal diabetes

    3. c.

      A multifactorial trait

    4. d.

      As a part of autosomal dominant syndrome

      1. i.

        Agenesis/dysgenesis of the corpus callosum

        ...

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References

  • Achiron, R., & Achiron, A. (2001). Development of the human fetal corpus callosum: A high-resolution, cross-sectional sonographic study. Ultrasound in Obstetrics & Gynecology, 18, 343–347.

    Article  CAS  Google Scholar 

  • Barkovich, A. J., Simon, E. M., & Walsh, C. A. (2001). Callosal agenesis with cyst. A better understanding and new classification. Neurology, 56, 220–227.

    PubMed  CAS  Google Scholar 

  • Bennett, G. L., Bromley, B., & Benacerraf, B. R. (1996). Agenesis of the corpus callosum: Prenatal detection usually is not possible before 22 weeks of gestation. Radiology, 199, 447–450.

    PubMed  CAS  Google Scholar 

  • Casaubon, L. K., Melanson, M., Lopes-Cendes, I., et al. (1996). The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. American Journal of Human Genetics, 58, 28–34.

    PubMed  CAS  Google Scholar 

  • D’Ercole, C., Girard, N., Cravello, L., et al. (1998). Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging. Prenatal Diagnosis, 18, 247–253.

    Article  PubMed  Google Scholar 

  • da-Silva, E. O. (1988). Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. American Journal of Medical Genetics, 29, 837–843.

    Article  PubMed  CAS  Google Scholar 

  • Dobyns, W. B. (1996). Absence makes the search grow longer (Editorial). American Journal of Medical Genetics, 58, 7–16.

    CAS  Google Scholar 

  • Finlay, D. C., Peto, T., Payling, J., et al. (2000). A study of three cases of familial related agenesis of the corpus callosum. Journal of Clinical and Experimental Neuropsychology, 22, 731–742.

    Article  PubMed  CAS  Google Scholar 

  • Gupta, J. K., & Lilford, R. J. (1995). Assessment and management of fetal agenesis of the corpus callosum. Prenatal Diagnosis, 15, 301–312.

    Article  PubMed  CAS  Google Scholar 

  • Jeret, J. S., Serur, D., Wisniewski, K., et al. (1985). Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatric Neuroscience, 12, 101–103.

    Article  PubMed  Google Scholar 

  • Lacey, D. J. (1985). Agenesis of the corpus callosum. Clinical features in 40 children. American Journal of Diseases of Children, 139, 953–955.

    PubMed  CAS  Google Scholar 

  • Loeser, J. D., & Alvord, E. C. (1968). Agenesis of the corpus callosum. Brain, 91, 553–570.

    Article  PubMed  CAS  Google Scholar 

  • Moutard, M.-L., Kieffer, V., Feingold, J., et al. (2003). Agenesis of corpus callosum: Prenatal diagnosis and prognosis. Child Nerv Syst, 19, 471–476.

    Article  Google Scholar 

  • Pilu, G., & Hobbins, J. C. (2002). Sonography of fetal cerebrospinal anomalies. Prenatal Diagnosis, 22, 321–330.

    Article  PubMed  Google Scholar 

  • Pilu, G. L., Sandri, F., Perolo, A., et al. (1993). Sonography of fetal agenesis of the corpus callosum: A survey of 35 cases. Ultrasound in Obstetrics & Gynecology, 3, 318–329.

    Article  CAS  Google Scholar 

  • Probst, F. P. (1973). Agenesis of the corpus callosum. Acta Radiologica, 331(Suppl), 1–150.

    CAS  Google Scholar 

  • Serur, D., Jeret, J. S., Wisniewski, K., et al. (1988). Agenesis of the corpus callosum: Clinical, neuroradiological and cytogenetic studies. Neuropediatrics, 19, 87–91.

    Article  PubMed  CAS  Google Scholar 

  • Vergani, P., Ghidini, A., Strobelt, N., et al. (1994). Prognostic indicators in the prenatal diagnosis of agenesis of the corpus callosum. American Journal of Obstetrics and Gynecology, 170, 753–758.

    PubMed  CAS  Google Scholar 

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(2012). Corpus Callosum Agenesis/Dysgenesis. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_58

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