Congenital stapes ankylosis, broad thumbs, and hyperopia: Report of a family and refinement of a syndrome

We report on a family with conductive hearing loss due to congenital stapes ankylosis, and with hyperopia, broad thumbs, and broad first toes. Neither of the studied relatives had symphalangism, possibly distinguishing this s yndrome as an entity separate from the facio-audio-symphalangism and proxim al symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the facio-audio-symphalangism and proximal sym phalangism syndromes, Visualization of the ossicular chain, and ophthalmolo gic and radiologic studies are important in the evaluation of families with congenital conductive hearing loss. A characteristic physiognomy in our pa tients is present; this autosomal dominant syndrome was first described by Teunissen and Cremers [1990: Laryngoscope 100:380-384]. (C) 1999 Wiley-Liss , Inc.