Perioperative Care of a Patient With Waardenburg Syndrome

Miranda Holbrook, Joseph D. Tobias


Waardenburg syndrome is a genetic disorder, resulting in defective control of the division and migration of neural crest cells including the melanocyte lineage during embryonic development. Primary involvement of melanocytes results in the characteristic phenotypic involvement including a white forelock, vitiligo, and heterochromia. Involvement of the organ of Corti leads to sensorineural hearing loss. Involvement of the craniofacial mesenchyme results in abnormal facial features, airway abnormality, and upper limb involvement malformations. Given the potential for end-organ involvement, surgical intervention may be required. Specific concerns during anesthetic care include the potential for difficulties with endotracheal intubation, tracheal involvement, impairment of communication related to deafness, and associated congenital heart disease.

J Med Cases. 2021;12(10):381-385


Waardenburg syndrome; Anesthesia; Airway; Sensorineural hearing loss

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