Waardenburg Syndrome

• Pathophysiology: may be from abnormal tyrosine metabolism

• Otologic SSx: unilateral or bilateral SNHL, may have vestibular dysfunction

• Other SSx: pigmentary abnormalities (heterochromic iriditis, white forelock, patchy skin depigmentation), craniofacial abnormalities (dystopia canthorum [widely spaced inner canthi], synophrys [confluent eyebrows], flat nasal root)

I: presence of telecanthus, 20% have SNHL II: no telecanthus, 50% have SNHL

III: associated with a unilateral ptosis and skeletal abnormalities

• Dx: clinical exam and history, family history

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