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[The Noonan syndrome]

S Vlaminck, G D'Hont, F Vanagt-Meire

    Acta Oto-Rhino-Laryngologica Belgica
    |January 1, 1982
    PubMed
    Summary
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    Noonan syndrome, a genetic disorder, presents with distinctive facial features, short stature, and potential developmental delays. This report highlights audiologic findings in two cases, including middle ear malformation and sensorineural hearing loss.

    Area of Science:

    • Genetics
    • Pediatrics
    • Otolaryngology

    Background:

    • Noonan syndrome is a genetic disorder resembling Turner syndrome but with a normal chromosomal constitution.
    • It is characterized by specific facial dysmorphies, short stature, and potential intellectual disability.

    Observation:

    • Two pediatric cases of Noonan syndrome are presented.
    • Key diagnostic features include hypertelorism, low-set ears, micrognathia, fish-like mouth, webbed neck, and cubitus valgus.

    Findings:

    • Cardiac malformations are common, affecting approximately 50% of patients.
    • Audiologic findings were emphasized: one patient had conductive hearing loss due to middle ear malformation, while the other exhibited sensorineural hearing loss.

    Implications:

    Related Experiment Videos

    • Early diagnosis and management of Noonan syndrome are crucial, particularly addressing associated cardiac and audiologic issues.
    • Further investigation is needed to clarify the link between sensorineural hearing loss and familial occurrence in Noonan syndrome.