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Blepharophimosis with associated cup-lop ears

K Boo-Chai

    Annals of Plastic Surgery
    |January 1, 1978
    PubMed
    Summary

    Blepharophimosis, a rare congenital condition, often presents with associated ear abnormalities. This study documents nine cases of blepharophimosis linked to cup-lop ears, highlighting a potential genetic link.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Pediatric Medicine

    Background:

    • Blepharophimosis is a rare congenital condition characterized by epicanthus inversus, blepharoptosis, and increased intercanthal distance.
    • Recent research has focused on associated anomalies like eyebrow abnormalities and nasal bridge hypoplasia.

    Observation:

    • This report details nine cases of blepharophimosis observed over 15 years.
    • All nine patients presented with associated cup-lop ears.
    • The cohort included a familial cluster: a father and his four children.

    Findings:

    • A significant association between blepharophimosis and cup-lop ears is observed.
    • The presence of cup-lop ears may be a notable feature in blepharophimosis syndrome.
    • Familial occurrence suggests a potential genetic basis for this association.

    Implications:

    • Recognizing this association can aid in the diagnosis of blepharophimosis.
    • Further genetic research is warranted to elucidate the underlying mechanisms.
    • This finding may inform genetic counseling for affected families.

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