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

Abstract

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 syndrome as an entity separate from the facio-audio-symphalangism and proximal symphalangism syndromes. An alternative possibility is that this family falls within the spectrum of the facioaudio-symphalangism and proximal symphalangism syndromes. Visualization of the ossicular chain, and ophthalmologic and radiologic studies are important in the evaluation of families with congenital conductive hearing loss. A characteristic physiognomy in our patients is present; this autosomal dominant syndrome was first described by Teunissen and Cremers [1990: Laryngoscope 100:380-384].

Stapes Ankylosis in a Family with a Novel NOG Mutation: Otologic Features of the Facioaudiosymphalangism Syndrome

“…The second family was that reported by Milunsky et al (21). Milunsky et al (21) described a family with a syndrome that the authors considered to be the same as the autosomal dominant syndrome described by Teunissen and Cremers (20). A mother and daughter had stapes ankylosis, hyperopia, and short broad thumbs; hyperopia and short broad thumbs were present in the mother's generation and in the mother's brother and their mother.…”

“…Each affected individual was thought to have had nonsyndromic otosclerosis. The second family was that reported by Milunsky et al (21). Milunsky et al (21) described a family with a syndrome that the authors considered to be the same as the autosomal dominant syndrome described by Teunissen and Cremers (20).…”

Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings

“…The combination of temporal bone CT scanning and exploratory tympanotomy is the ideal method of investigation. A normal CT scan with normal malleus and incus mobility and intact incudostpedial joint is diagnostic of stapes ankylosis [3]. It has been shown that CT scanning can diagnose up to 90% of cases of otosclerosis but only 57% of cases of minor ossicular abnormality [4].…”

Hands

“…The disorder is caused by mutations in the NOG gene, the same gene as is responsible for proximal symphalangism and synostosis syndromes. The inheritance pattern is autosomal dominant (Milunsky et al 1999;Brown et al 2002).…”