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  • Title: The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.
    Author: Janku P, Robinow M, Kelly T, Bralley R, Baynes A, Edgerton MT.
    Journal: Am J Med Genet; 1980; 5(2):117-23. PubMed ID: 7395906.
    Abstract:
    The van der Woude syndrome was studied in a seven-generation kindred. Lip pits were the most common manifestation of affected persons. They occurred in 88% of the affected and were the only manifestations in 64%; clefts of lip and palate occurred in 21%. Penetrance was 96.7%. Careful examination showed minor manifestations of the syndrome in several individuals who had considered themselves unaffected. The distribution of manifestations and the risk to off-spring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.
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