246 - Mowat–Wilson Syndrome: A Case Report with Dental Considerations

Abstract:

Introduction: Mowat–Wilson syndrome is a rare congenital genetic disorder caused by heterozygous pathogenic variants or deletions of the ZEB2 gene. It is characterized by distinctive craniofacial features, intellectual disability, and multiple congenital anomalies, most commonly affecting the gastrointestinal, neurological, cardiac, and genitourinary systems. Hirschsprung disease is frequently associated and may serve as an early diagnostic indicator. Clinically, affected individuals often present with broad nasal tips, hypertelorism, large uplifted earlobes, and a prominent chin, along with delayed psychomotor development and seizures. Oral manifestations may include delayed tooth eruption, malocclusion, bruxism, and behavioral challenges, complicating dental management.

Case Report: A 16-year-old male with a history of Mowat–Wilson syndrome presented to the University Hospitals Rainbow Babies & Children’s Hospital Emergency Department following a fall from his wheelchair down two stairs, resulting in facial trauma. His complex medical history included congenital heart defects, seizures, developmental delay, tracheal stenosis, hemiparesis, and recurrent nephrolithiasis. Medications included Prilosec, sodium bicarbonate, Pyridium, and Depakene, with reported allergies to cheese, milk, and propofol. Clinical examination revealed significant right-sided mandibular and submandibular swelling, limited mouth opening, floor-of-mouth hematoma, and right mandibular displacement. Tooth #R was displaced lingually but non-mobile. CT imaging demonstrated a fracture of the right mandibular body and alveolar ridge, along with multiple retained primary and unerupted permanent teeth. Management involved a multidisciplinary approach including dental and plastic surgery teams. This report will include the clinical and systemic associations of Mowat-Wilson syndrome, differential diagnoses, and treatment rendered for the patient.

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