Literature DB >> 4051868

Proximal symphalangia and stapes ankylosis.

C Cremers, E Theunissen, W Kuijpers.   

Abstract

A father and his two sons had an autosomal-dominant syndrome of proximal symphalangia and conductive hearing loss. Exploratory tympanotomy revealed a congenitally fixed stapes and incus in the oldest boy. Surgical intervention resulted in normal hearing. To our knowledge, this is the first such histologic report of a stapes in this syndrome.

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Year:  1985        PMID: 4051868     DOI: 10.1001/archotol.1985.00800130097014

Source DB:  PubMed          Journal:  Arch Otolaryngol        ISSN: 0003-9977


  3 in total

1.  Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Authors:  Akira Ganaha; Tadashi Kaname; Yukinori Akazawa; Teruyuki Higa; Ayano Shinjou; Kenji Naritomi; Mikio Suzuki
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  Case report 857: Hereditary symphalangism with carpal and tarsal fusions and deafness.

Authors:  C M Perme; S P Johnson; A S Weinstein
Journal:  Skeletal Radiol       Date:  1994-08       Impact factor: 2.199

3.  Surgery for congenital anomalies of the middle ear with mobile stapes.

Authors:  E Teunissen; C W Cremers
Journal:  Eur Arch Otorhinolaryngol       Date:  1993       Impact factor: 2.503

  3 in total

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