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The temporal bone anomaly in CHARGE association.

J P Guyot, R R Gacek, P DiRaddo

    Archives of Otolaryngology--Head & Neck Surgery
    |March 1, 1987
    PubMed
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    CHARGE association patients can exhibit unique temporal bone dysplasia. This specific labyrinthine malformation, termed CHARGE dysplasia, involves Mondini dysplasia of the pars inferior and absence of the pars superior.

    Area of Science:

    • Otolaryngology
    • Genetics
    • Developmental Biology

    Background:

    • CHARGE association is a complex genetic disorder with diverse clinical manifestations.
    • Inner ear malformations are frequently observed in patients with CHARGE association.
    • Temporal bone abnormalities contribute to the characteristic symptoms of CHARGE association.

    Observation:

    • Examination of temporal bones revealed an unusual dysplasia in a patient with CHARGE association.
    • Mondini dysplasia of the pars inferior was observed bilaterally.
    • Complete absence of the pars superior was noted in both temporal bones.

    Findings:

    • The observed anomaly represents a specific form of labyrinthine dysplasia.
    • This unique malformation has been previously described in four other cases with CHARGE-like features.

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  • The study proposes naming this anomaly 'CHARGE dysplasia of the temporal bone'.

    • Implications:

    • This finding may aid in the diagnosis and understanding of CHARGE association.
    • Recognizing this specific temporal bone dysplasia can improve audiological and vestibular assessments.
    • Further research into the genetic and developmental basis of CHARGE dysplasia is warranted.