Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome

• DOI: 10.1177/1055665618773192
• Publication Date: 2018-04-30T18:22:03Z
• Authors: Alexa Robbins; Yuri A. Zarate; Larry D. Hartzell
• Keywords: Secondary palate; Presentation (obstetrics); Airway obstruction; Soft palate

This report describes the presentation of a newborn male with circumferential tongue-palate fusion associated cleft palate and alveolar bands. After intraoral adhesions lysis, patient was diagnosed Pierre Robin sequence. A family history lip noted, interferon regulatory factor 6 ( IRF6) sequencing revealed heterozygous variant, confirming diagnosis van der Woude syndrome. The disruption IRF6 resulted in abnormal orofacial development including micrognathia as well fusion, then resulting glossoptosis airway obstruction palate.