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The acrocallosal syndrome

M M Nelson, A J Thomson

    American Journal of Medical Genetics
    |June 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    This report details two unrelated patients with acrocallosal syndrome, a newly described condition. Key features include distinctive facial appearance, polydactyly, intellectual disability, and agenesis of the corpus callosum.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Acrocallosal syndrome is a rare genetic disorder.
    • It is characterized by specific physical and neurological abnormalities.

    Observation:

    • Two unrelated patients, a 3-year-old girl and an 8-year-old boy, were diagnosed with acrocallosal syndrome.
    • Both patients presented with unusual facial features, pre- and postaxial polydactyly, and intellectual disability.

    Findings:

    • Absence of the corpus callosum (agenesis of the corpus callosum) was a consistent finding in both patients.
    • The etiology of this syndrome remains unknown.

    Implications:

    • This case report expands the understanding of acrocallosal syndrome's clinical manifestations.
  • Further research is needed to identify the genetic basis and potential treatments for acrocallosal syndrome.