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Labyrinthine anomalies in trisomy 13 mosaicism

F Suga, G Matz, J Schulz

    ORL; Journal for Oto-Rhino-Laryngology and Its Related Specialties
    |January 1, 1976
    PubMed
    Summary

    Temporal bone histopathology in a male infant with trisomy 13 mosaicism revealed significant ear anomalies. These included malformations of semicircular canals, cochlea, and middle ear structures, impacting auditory development.

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    Area of Science:

    • Otolaryngology
    • Genetics
    • Developmental Biology

    Background:

    • Trisomy 13 mosaicism is a genetic disorder associated with multiple congenital anomalies.
    • Bilateral cleft palate, cleft lip, and polydactyly are common manifestations.
    • Understanding the specific impact on craniofacial development, particularly the temporal bone, is crucial.

    Observation:

    • A histopathological study was conducted on the temporal bone of a 2-month-old male infant diagnosed with trisomy 13 mosaicism.
    • The infant presented with a bilateral cleft palate, cleft lip, and polydactyly.
    • Detailed examination focused on the inner and middle ear structures.

    Findings:

    • Significant anomalies were observed in the semicircular canals, including partial absence of the superior and abnormal width of the lateral canals.
    • The cochlea exhibited underdeveloped coils, an abnormally broad modiolus, and an undeveloped organ of Corti and basilar membrane in the basal turn.
    • Further findings included an unusually wide cochlear aqueduct and deformed stapedial crura.

    Implications:

    • These temporal bone anomalies likely contribute to hearing impairments in individuals with trisomy 13 mosaicism.
    • The study highlights the complex interplay between genetic mutations and craniofacial development.
    • Further research can inform early diagnosis and management strategies for affected infants.

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