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The extra digit. A pointer to the eye?

D Calver, J Keast-Butler, D Taylor

    Transactions of the Ophthalmological Societies of the United Kingdom
    |January 1, 1981
    PubMed
    Summary
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    Polydactyly (extra digits) can co-occur with eye abnormalities in several genetic syndromes beyond Laurence-Moon-Biedl syndrome. This study explores these associations, including retinal dystrophy in rare genetic conditions.

    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Clinical Dysmorphology

    Background:

    • The Laurence-Moon-Biedl syndrome is a known cause of polydactyly and retinal dystrophy.
    • Several other genetic syndromes involve polydactyly and ocular malformations, including colobomata and microphthalmos.

    Observation:

    • Syndromes with polydactyly and ocular abnormalities may present with ptosis, hypertelorism, and lateral canthal displacement.
    • Retinal dystrophy is observed in Trisomy 13, Bloom syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), and Ellis-van Creveld syndrome.

    Findings:

    • This study details a case of Ellis-van Creveld syndrome with retinal dystrophy.
    • A case with a chromosomal defect (chromosome 2 addition), polydactyly, and retinal dystrophy is also presented.

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    Implications:

    • Recognizing these diverse syndromes is crucial for accurate diagnosis and management of patients with polydactyly and ocular defects.
    • Further research into the genetic and molecular underpinnings of these syndromes can improve patient outcomes.