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  • Title: [Waardenburg syndrome type I--autosomal dominant hereditary combination of multiple facial anomalies with cochlear deafness (author's transl)].
    Author: Meinecke P.
    Journal: Klin Padiatr; 1982 Mar; 194(2):112-6. PubMed ID: 7098370.
    Abstract:
    Waardenburg syndrome Type I is described on the basis of an observation of a family. The characteristic signs including lateral displacement of medial canthi ("telecanthus"), wide bridge of the nose, white forelock and severe cochlear deafness are found in one female patient only; however, her eyes are not of different colour. Five further bearers of characteristic signs in four generations are not so severely affected and show the facial anomalies only. To differentiate this syndrome against Waardenburg syndrome Type II which is complicated by deafness twice as often but occurs without the lateral displacement of the medial canthi, accurate measurement of the distance between the canthi is helpful. Waardenburg syndromes are hereditary according to the autosomal dominant principle with high penetration; intrafamiliarly, too, expressivity can vary greatly. To date treatment has been directed at the signs and symptoms; prognosis is usually favourable. Prevention appears possible through genetic family counseling.
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