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[Van der Woude syndrome].

P G Calzavara Pinton, R Gavazzoni, A Carlino

    Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia
    |April 1, 1989
    PubMed
    Summary
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    Van der Woude syndrome, a genetic disorder causing lower lip pits, can also involve cleft lip and palate. This Italian family study highlights variable clinical presentations and associated dental anomalies.

    Area of Science:

    • Genetics
    • Medical Science
    • Oral and Maxillofacial Surgery

    Background:

    • Van der Woude syndrome, characterized by lower lip pits, is an autosomal dominant disorder.
    • It often presents with or without the cleft lip and/or palate complex.
    • The syndrome exhibits high penetrance (80%) but variable clinical expressivity.

    Observation:

    • This study examined eight members of an Italian family.
    • One member presented with lip pits and a submucous cleft palate.
    • Four members exhibited isolated lip pits, and three of these also had congenital absence of second premolars.

    Findings:

    • The observed cases demonstrate the variable phenotypic expression of Van der Woude syndrome.
    • Associated dental anomalies, such as congenital absence of premolars, were noted in some affected individuals.

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  • This report represents the first documented case of Van der Woude syndrome in an Italian family.

    • Implications:

    • Understanding the variable expressivity is crucial for accurate diagnosis and genetic counseling.
    • The association with dental anomalies broadens the spectrum of clinical features to consider.
    • This case contributes to the genetic mapping and understanding of Van der Woude syndrome in diverse populations.