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Syndromes/Craniofacial Anomalies

380 - Oral Rehabilitation of a Cardiofaciocutaneous Syndrome Patient: Case Report

Saturday, May 25, 2024
10:00 AM – 10:10 AM EST
Location: Exhibit Hall (back left corner of the hall, space 137)
Abstract:

Introduction: Cardiofaciocutaneous syndrome (CFC), it´s a genetically heterogeneous affection and results from mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway, which affects the receptor tyrosine kinase (RTK), that plays a role in the craniofacial and dental development. CFC syndrome is a rare disorder characterized by craniofacial dysmorphology, intellectual disability, congenital heart disease, growth retardation, dermatological and neurologic anomalies. Children with CFC require multidisciplinary care from specialists and a comprehensive management to achieve a better life prognosis.



Case Report: Seventeen-year-old male presented to the pediatric clinic, accompanied by his parents, who noticed that their son had dental pain for several months. His medical history includes a diagnosis of CFC, intellectual disability, and congenital hypothyroidism which is currently managed with daily levothyroxine of 150 mg and multivitamins. Clinical examination revealed poor oral hygiene, anterior and posterior crossbite,  periodontitis, existing restorations, MIH, active carious lesions in multiple teeth, radicular remains of #12, 14, 19, 30, 31, semi erupted lower third molars and missing #1, 3 and 5. Radiographs and Cone Beam findings revealed general crestal bone loss, retained #5, multiple supernumerary teeth, periapical lesion in #7, 19, 30, and endodontic treatment in #10. From previous medical evaluation, prevention habits were instructed to the patient's caregivers, and oral rehabilitation was performed under conscious sedation. This report details the management of a compromised patient, oral rehabilitation, and follow-up, demonstrating how motivation of caregivers and establishment of special oral care techniques promote maintenance of oral health.

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