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OALib Journal期刊
ISSN: 2333-9721
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-  2019 

Combined Tongue

DOI: 10.1177/1055665618773192

Keywords: tongue-palate fusion,van der Woude syndrome,IRF6,Pierre Robin sequence,cleft

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Abstract:

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

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