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The Coffin-Siris syndrome.

W W Tunnessen, J A McMillan, M B Levin

    American Journal of Diseases of Children (1960)
    |April 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    This report details the sixth case of Coffin-Siris syndrome, a rare genetic disorder. The patient exhibited characteristic features including digital anomalies and developmental delays, alongside a Dandy-Walker malformation.

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    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Neurology

    Background:

    • Coffin-Siris syndrome is a rare genetic disorder.
    • Characterized by hypoplastic fifth nails, facial anomalies, and developmental delays.
    • Often associated with feeding and respiratory difficulties.

    Observation:

    • Presents the sixth reported case of Coffin-Siris syndrome.
    • The patient displayed typical features: absent fifth fingernails and toenails, severe intellectual and developmental retardation, and postnatal growth deficiency.
    • Prominent feeding and respiratory issues were noted.

    Findings:

    • Autopsy revealed a Dandy-Walker malformation in the patient.
    • This cerebellar and brainstem malformation was also present in a previously reported autopsy case of Coffin-Siris syndrome.

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  • Suggests a potential association between Dandy-Walker malformation and Coffin-Siris syndrome.

    • Implications:

    • Highlights the importance of recognizing Coffin-Siris syndrome's diverse clinical manifestations.
    • The consistent finding of Dandy-Walker malformation warrants further investigation into its role in the syndrome's pathophysiology.
    • Emphasizes the need for comprehensive diagnostic and management strategies for affected individuals.