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  • Title: The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
    Author: Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M.
    Journal: Clin Dysmorphol; 1997 Jul; 6(3):195-203. PubMed ID: 9220188.
    Abstract:
    A family is reported with conductive hearing loss, hyperopia, broad thumbs and broad first toes. The family resembles a previous reported family (Teunissen B, Cremers CWRJ (1990) Laryngoscope 100: 380-384) but additionally all affected members have a typical face. Overlap of the Teunissen and Cremers syndrome with the facio-audio-symphalangism syndrome and proximal symphalangism is discussed.
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