Deafness 3, conductive, with stapes fixation (DFN3)
X-linked deafness with stapes gusher
Deafness, mixed, with perilymph gusher
Nance deafness
Cochlear incomplete partition type III (IP-III)
Definitions
Profound sensorineural hearing loss (SNHL) ± conductive hearing loss (CHL) + bilateral unique inner ear anomaly
IP-III: Cochlear malformation in X-linked deafness
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
O'Brien WT, Sr et al: Nonsyndromic congenital causes of sensorineural hearing loss in children: an illustrative review. AJR Am J Roentgenol. 1-8, 2021
Hong R et al: New imaging findings of incomplete partition type III inner ear malformation and literature review. AJNR Am J Neuroradiol. 41(6):1076-80, 2020
Sun J et al: Outcomes of cochlear implantation in patients with incomplete partition type III. Int J Pediatr Otorhinolaryngol. 131:109890, 2020
Sennaroğlu L et al: Incomplete partition type III: a rare and difficult cochlear implant surgical indication. Auris Nasus Larynx. 45(1):26-32, 2018
Sennaroğlu L et al: Classification and current management of inner ear malformations. Balkan Med J. 34(5):397-411, 2017
Özbal Batuk M et al: Audiological and radiological characteristics in incomplete partition malformations. J Int Adv Otol. 13(2):233-8, 2017
Choi BY et al: Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. Laryngoscope. 126(3):E123-8, 2016
Gong WX et al: HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation. Int J Pediatr Otorhinolaryngol. 78(10):1756-62, 2014
Lee HK et al: Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 39(3):195-201, 2009
Lee HK et al: Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. Clin Genet. 75(6):572-5, 2009
Incesulu A et al: Cochlear implantation in cases with incomplete partition type III (X-linked anomaly). Eur Arch Otorhinolaryngol. 2008 Nov;265(11):1425-30. Epub 2008 Feb 28. Erratum in: Eur Arch Otorhinolaryngol. 265(11):1439, 2008
Sennaroglu L et al: Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 27(5):615-23, 2006
Kumar G et al: X-linked stapes gusher: CT findings in one patient. AJNR Am J Neuroradiol. 24(6):1130-2, 2003
Friedman RA et al: Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol. 106(4):320-5, 1997
de Kok YJ et al: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 267(5198):685-8, 1995
Phelps PD et al: X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology. 33(4):326-30, 1991
Nance WE et al: X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser. 07(4):64-9, 1971
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Deafness X-linked 2 (DFNX2)
X-linked mixed hearing loss (XLMHL)
Synonyms
Deafness 3, conductive, with stapes fixation (DFN3)
X-linked deafness with stapes gusher
Deafness, mixed, with perilymph gusher
Nance deafness
Cochlear incomplete partition type III (IP-III)
Definitions
Profound sensorineural hearing loss (SNHL) ± conductive hearing loss (CHL) + bilateral unique inner ear anomaly
IP-III: Cochlear malformation in X-linked deafness
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
O'Brien WT, Sr et al: Nonsyndromic congenital causes of sensorineural hearing loss in children: an illustrative review. AJR Am J Roentgenol. 1-8, 2021
Hong R et al: New imaging findings of incomplete partition type III inner ear malformation and literature review. AJNR Am J Neuroradiol. 41(6):1076-80, 2020
Sun J et al: Outcomes of cochlear implantation in patients with incomplete partition type III. Int J Pediatr Otorhinolaryngol. 131:109890, 2020
Sennaroğlu L et al: Incomplete partition type III: a rare and difficult cochlear implant surgical indication. Auris Nasus Larynx. 45(1):26-32, 2018
Sennaroğlu L et al: Classification and current management of inner ear malformations. Balkan Med J. 34(5):397-411, 2017
Özbal Batuk M et al: Audiological and radiological characteristics in incomplete partition malformations. J Int Adv Otol. 13(2):233-8, 2017
Choi BY et al: Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. Laryngoscope. 126(3):E123-8, 2016
Gong WX et al: HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation. Int J Pediatr Otorhinolaryngol. 78(10):1756-62, 2014
Lee HK et al: Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 39(3):195-201, 2009
Lee HK et al: Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. Clin Genet. 75(6):572-5, 2009
Incesulu A et al: Cochlear implantation in cases with incomplete partition type III (X-linked anomaly). Eur Arch Otorhinolaryngol. 2008 Nov;265(11):1425-30. Epub 2008 Feb 28. Erratum in: Eur Arch Otorhinolaryngol. 265(11):1439, 2008
Sennaroglu L et al: Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 27(5):615-23, 2006
Kumar G et al: X-linked stapes gusher: CT findings in one patient. AJNR Am J Neuroradiol. 24(6):1130-2, 2003
Friedman RA et al: Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol. 106(4):320-5, 1997
de Kok YJ et al: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 267(5198):685-8, 1995
Phelps PD et al: X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology. 33(4):326-30, 1991
Nance WE et al: X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser. 07(4):64-9, 1971
STATdx includes over 200,000 searchable images, including x-ray, CT, MR, and ultrasound images. To access all images, please log in or subscribe.