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Ankyloblepharon filiforme adnatum.

C H Akkermans, L M Stern

    The British Journal of Ophthalmology
    |February 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Ankyloblepharon filiforme adnatum, a rare eyelid condition, was observed in siblings with syndactyly and cleft lip/palate. This suggests a potential link to the popliteal pterygium syndrome.

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    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Ankyloblepharon filiforme adnatum (AFA) is a congenital condition where the eyelid margins are partially fused.
    • AFA can occur in isolation or as part of genetic syndromes.

    Observation:

    • Two siblings presented with AFA.
    • One sibling had associated cleft lip and palate.
    • The other sibling had bilateral syndactyly of the second and third toes.

    Findings:

    • A family history revealed bilateral syndactyly of the second and third toes in the father, paternal grandmother, and great-grandmother.
    • Review of ophthalmic literature indicates AFA can be associated with other congenital anomalies.
    • Cases of AFA within popliteal pterygium syndrome were also reviewed.

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    Implications:

    • The findings suggest that AFA, along with syndactyly and clefting, may represent a spectrum of the popliteal pterygium syndrome.
    • Autosomal dominant inheritance, incomplete penetrance, and variable expressivity are postulated for this syndrome.
    • Further research is warranted to elucidate the genetic basis and phenotypic variability of this condition.