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.
| Original language | English |
|---|---|
| Pages (from-to) | 123-126 |
| Number of pages | 4 |
| Journal | Cleft Palate-Craniofacial Journal |
| Volume | 56 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2019 |
Bibliographical note
Publisher Copyright:© 2018, American Cleft Palate-Craniofacial Association.
Keywords
- cleft
- IRF6
- Pierre Robin sequence
- tongue-palate fusion
- van der Woude syndrome
ASJC Scopus subject areas
- Oral Surgery
- Otorhinolaryngology
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