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The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia
Y Hilhorst-Hofstee1, P M Watkin, C M Hall
1Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Clinical Dysmorphology
|July 1, 1997
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.