61 - Dental Considerations in a Pediatric Patient with Waardenburg Syndrome

Abstract:

Introduction: Waardenburg syndrome is a rare congenital genetic disorder characterized by a combination of sensorineural hearing loss, craniofacial dysmorphia, and abnormal pigmentation of the hair, skin, and eyes. Caused by mutations in genes involved in neural crest cell migration, Waardenburg syndrome is observed with variable clinical expression. Craniofacial features such as a broad nasal root and dystopia canthorum may be seen, and hearing impairment may hinder communication and clinical management in pediatric patients. Proper recognition of these features is important for dental providers, especially in emergency and trauma settings. Failure to recognize Waardenburg syndrome may result in misidentification of associated craniofacial, auditory, and genetic abnormalities, resulting in inappropriate treatment planning, overlooked medical risks, and delayed referrals for proper interdisciplinary care.

Case Report: This presentation describes a 10-year-old female presenting for an emergency dental visit following traumatic injury that resulted in avulsion of a maxillary tooth. Symptoms included pain and tenderness upon palpation and opening of the jaw. Her mother denied any significant medical history or medications, and denied knowledge of drug allergies. Clinical examination in combination with review of records revealed features consistent with Waardenburg syndrome, specifically pigmentary abnormalities and craniofacial characteristics. Following emergency treatment of composite bonded flexible splinting of the avulsed tooth, the patient was scheduled for follow-up care in the pediatric dental clinic. This report discusses the clinical presentation and relevant genetic and craniofacial features of Waardenburg syndrome to inform clinical considerations for dental trauma management and interdisciplinary care in pediatric patients with this condition.

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