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Cat's eye syndrome with cleft soft palate

K Nakamura

    Annals of Plastic Surgery
    |January 1, 1985
    PubMed

    Insights

    Cat's eye syndrome, a rare genetic disorder, often presents with congenital anomalies. This case highlights a rare association with cleft palate, emphasizing the need for comprehensive management in affected children.

    Area of Science:

    • Genetics
    • Pediatrics
    • Ophthalmology

    Background:

    • Cat's eye syndrome is a rare chromosomal disorder characterized by multiple congenital anomalies.
    • Previous reports indicate a low incidence of cleft palate in Cat's eye syndrome patients.

    Observation:

    • A 4-year-old male with Cat's eye syndrome presented with iridochoroidal coloboma, cleft soft palate, hypertelorism, epicanthal folds, hearing deficit, congenital heart disease (pulmonary arteriovenous fistula), and developmental delays.
    • This patient had a 47,XY + marker chromosome.
    • The patient lacked anal atresia, preauricular skin tags, microphthalmia, depressed nasal bridge, and renal or skeletal anomalies.

    Findings:

    • This case represents a rare instance of Cat's eye syndrome associated with cleft palate.
    • Surgical repair of the cleft soft palate was successfully performed at 2.5 years of age.

    Implications:

    • This case underscores the importance of thorough evaluation for associated anomalies in Cat's eye syndrome.
    • Early surgical intervention for cleft palate can improve outcomes in affected children.

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