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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Waardenburg syndrome (WS)
Synonyms
- WS4 = Waardenburg-Shah syndrome
- WS3 = Klein-WS
Definitions
- Auditory pigmentary dysmorphology syndrome
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Pingault V et al: SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. J Med Genet. 59(2):105-14, 2022
- Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
- Huang BY et al: Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes. AJNR Am J Neuroradiol. 33(3):399-406, 2012
- Pingault V et al: Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 31(4):391-406, 2010
- Madden C et al: Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 113(11):2035-41, 2003
- Oysu C et al: Temporal bone imaging findings in Waardenburg's syndrome. Int J Pediatr Otorhinolaryngol. 58(3):215-21, 2001
- Beighton P et al: Hearing impairment and pigmentary disturbance. Ann N Y Acad Sci. 630:152-66, 1991
- Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 3(3):195-253, 1951
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Waardenburg syndrome (WS)
Synonyms
- WS4 = Waardenburg-Shah syndrome
- WS3 = Klein-WS
Definitions
- Auditory pigmentary dysmorphology syndrome
IMAGING
General Features
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Pingault V et al: SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. J Med Genet. 59(2):105-14, 2022
- Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
- Huang BY et al: Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes. AJNR Am J Neuroradiol. 33(3):399-406, 2012
- Pingault V et al: Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 31(4):391-406, 2010
- Madden C et al: Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 113(11):2035-41, 2003
- Oysu C et al: Temporal bone imaging findings in Waardenburg's syndrome. Int J Pediatr Otorhinolaryngol. 58(3):215-21, 2001
- Beighton P et al: Hearing impairment and pigmentary disturbance. Ann N Y Acad Sci. 630:152-66, 1991
- Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 3(3):195-253, 1951
