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Opitz (G) syndrome.

C P Kimmelman, J C Denneny

    International Journal of Pediatric Otorhinolaryngology
    |October 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    Opitz syndrome (G syndrome) is a rare genetic disorder causing congenital malformations and severe aspiration. Early recognition is crucial due to life-threatening airway obstruction and swallowing difficulties.

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    Area of Science:

    • Genetics
    • Pediatrics
    • Otolaryngology

    Background:

    • Opitz syndrome, also known as G syndrome, is characterized by congenital anomalies including hypertelorism and hypospadias.
    • It is often associated with recurrent aspiration due to impaired swallowing mechanisms.
    • The inheritance pattern is suggested to be autosomal dominant with a male predominance.

    Observation:

    • This report details an infant diagnosed with Opitz syndrome.
    • The infant experienced progressive airway obstruction necessitating multiple endotracheal intubations.
    • A laryngeal granuloma developed post-extubation, requiring tracheostomy and surgical removal.

    Findings:

    • Persistent aspiration was a significant and ongoing issue for the patient.
    • No vocal cord paralysis or structural laryngeal abnormalities were identified.

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  • Aspiration was attributed to neural incoordination affecting laryngeal and pharyngoesophageal motor functions.

    • Implications:

    • The findings highlight the critical role of neural dysregulation in the aspiration associated with Opitz syndrome.
    • Early diagnosis of Opitz syndrome is imperative for managing life-threatening complications like airway obstruction and aspiration.
    • This case underscores the need for comprehensive respiratory and swallowing assessments in affected infants.