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Trisomy 18. A temporal bone report.

A W Miglets, D Schuller, E Ruppert

    Archives of Otolaryngology (Chicago, Ill. : 1960)
    |July 1, 1975
    PubMed
    Summary
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    This study details the rare temporal bone abnormalities in Edwards syndrome (trisomy 18). Unreported findings include external auditory canal atresia and developmental arrest in the cochlea.

    Area of Science:

    • Otolaryngology
    • Genetics
    • Developmental Biology

    Background:

    • Edwards syndrome (trisomy 18) is a severe genetic disorder with limited reported temporal bone findings.
    • Previous studies documented a wide range of middle and inner ear malformations in trisomy 18.
    • Understanding these otic anomalies is crucial for diagnosing and managing associated hearing impairments.

    Purpose of the Study:

    • To describe the detailed temporal bone histopathology in a patient with Edwards syndrome.
    • To identify and report previously undocumented otic malformations associated with trisomy 18.

    Main Methods:

    • Histopathological examination of the temporal bone from a confirmed case of Edwards syndrome.
    • Detailed analysis of the external, middle, and inner ear structures, including ossicles, nerves, and ducts.

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    Main Results:

    • Observed complete bony atresia of the external auditory canal.
    • Identified an aberrant tensor tympani muscle attaching to a dehiscent Fallopian canal.
    • Noted wide, short utricular and saccular ducts, a patent cochlear aqueduct, and cochlear developmental arrest.

    Conclusions:

    • This case expands the spectrum of known temporal bone abnormalities in Edwards syndrome.
    • The findings suggest a critical developmental window during the 12th week of gestation for otic malformations in trisomy 18.
    • Further research is needed to correlate specific genetic mutations with observed otic phenotypes.