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Syndromes/Craniofacial Anomalies

463 - Oral Manifestations of Keratosis Ichthyosis Deafness (KID) Syndrome: Case Report

Saturday, May 25, 2024
12:00 PM – 12:10 PM EST
Location: Exhibit Hall (back left corner of the hall, space 137)

    Presenting Author(s)

  • Elizabeth Asdell, DDS

    Pediatric Dental Resident PGY-1
    Indiana University, Bloomington, IN
    Indiana University School of Dentistry- Riley Hospital for Children
    Indianapolis, Indiana, United States

    • Co-Author(s)

  • LV

    LaQuia Vinson, DDS, MPH

    Riley Children's Hospital

    • Program Director(s)

  • LV

    LaQuia A. Vinson, DDS, MPH

    Associate Professor
    Indiana University, Bloomington, IN
    Indianapolis, Indiana, United States

Abstract:



Introduction: Keratosis Ichthyosis Deafness (KID) Syndrome is a rare genetic disorder caused by a gap junction protein beta 2 (GJB2) gene mutation. Common oral manifestations include abnormalities in the dentition as well as an increased risk of squamous cell carcinoma of the mucosal tissue.

 



Case Report: This report discusses a premature infant who was transferred to a level IV NICU for metabolic acidosis with subsequent needs of ongoing respiratory, nutritional and thermoregulatory support who also presented with dysmorphic features and a variety of oral abnormalities typically seen in patients with KID syndrome. This report will highlight the clinical findings often associated with KID, differential diagnoses, and subsequent management of a patient with KID.

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