遠視と指骨異常を伴う遺伝性伝音難聴

DOI 被引用文献1件 参考文献19件

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  • Congenital Conductive Hearing Loss Associated with Hyperopia and Broad Thumbs.

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Two families were reported with congenital conductive hearing loss, hyperopia, broad thumbs and broad first toes. These families fall within the spectrum of an autosomal dominant syndrome with congenital stapes ankylosis first described by Teunissen B & Cremers CWRJ in 1990. Affected members of our first family also showed to have symphalangism, syndactyly and cervical spine fusion. Clinical distinction between Teunissen-Cremers syndrome and proximal symphalngism syndrome or facio-audio-symphalangism syndrome was discussed.

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