Congenital conductive hearing loss in dyschondrosteosis.
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.
De Leenheer
Els M R
EM
Department of Otorhinolaryngology, University Medical Center St Radboud, Nijmegen, The Netherlands.
Oudesluijs
Grétel G
GG
Kuijpers-Jagtman
Anne-Marie
AM
Rappold
Gudrun A
GA
Sengers
Rob C A
RC
Cremers
Cor W R J
CW
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D001301:Audiometry, Pure-Tone; D002508:Cephalometry; D002648:Child; D002872:Chromosome Deletion; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007188:Incus / Q000002:abnormalities*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D000074122:Short Stature Homeobox Protein; D013201:Stapes Surgery; D014457:Ulna / Q000002:abnormalities*
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein