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Related Experiment Videos

Syndactyly type V.

M Robinow, G F Johnson, G J Broock

    American Journal of Medical Genetics
    |April 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    This study details type V syndactyly in a mother and three children, characterized by hand and foot anomalies. The condition, involving fused metacarpals and digit abnormalities, is inherited as an autosomal dominant trait.

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    Area of Science:

    • Genetics
    • Orthopedics
    • Developmental Biology

    Background:

    • Syndactyly, a congenital condition involving fused digits, presents in various forms.
    • Type V syndactyly specifically affects the fourth and fifth digits, often with associated skeletal anomalies.

    Observation:

    • A familial case of type V syndactyly is presented, involving a mother and three of her four children.
    • Patients exhibited bilateral metacarpal 4-5 fusion, abnormal digit development, brachydactyly, camptodactyly, and unique palmar dermatoglyphics.
    • Foot anomalies included metatarsal and toe deviations and abnormal development of the first and third to fifth rays.

    Findings:

    • The inheritance pattern observed in this family is consistent with autosomal dominant transmission of type V syndactyly.
    • Clinical presentation varied in severity, with the daughter showing milder symptoms and an additional congenital urinary tract anomaly.

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  • Surgical findings revealed anomalous muscle and tendon insertions in one affected individual.

    • Implications:

    • This case reinforces the genetic basis of type V syndactyly and its autosomal dominant inheritance pattern.
    • Understanding the spectrum of anomalies associated with type V syndactyly aids in diagnosis and genetic counseling.
    • Further research into the molecular mechanisms underlying syndactyly can inform therapeutic strategies.