Publication year
2003Source
Annals of Otology, Rhinology and Laryngology, 112, 2, (2003), pp. 153-8ISSN
Publication type
Article / Letter to editor
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Organization
Otorhinolaryngology
Orthodontics and Oral Biology
Paediatrics - OUD tm 2017
Journal title
Annals of Otology, Rhinology and Laryngology
Volume
vol. 112
Issue
iss. 2
Page start
p. 153
Page end
p. 8
Subject
UMCN 3.3: Neurosensory disorders; UMCN 4.3: Tissue engineering and reconstructive surgeryAbstract
Conductive hearing loss was detected in a boy with a previous diagnosis of dyschondrosteosis. Dyschondrosteosis is a rare inherited condition characterized by mesomelic dwarfism and Madelung's deformity. The syndrome can be caused by mutations in the SHOX gene, and in that case, the pattern of inheritance is pseudoautosomal dominant. Indeed, SHOX mutation analysis in our patient revealed a deletion. The combination of dyschondrosteosis and conductive hearing loss has been reported in 2 previous cases. In our patient, exploratory tympanotomy revealed ankylosis of the stapes and a malformed incus. A substantial gain in hearing threshold was obtained by a stapedectomy in combination with a malleovestibulopexy.
This item appears in the following Collection(s)
- Academic publications [238441]
- Faculty of Medical Sciences [90373]
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