Resumen
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.
| Idioma original | English |
|---|---|
| Páginas (desde-hasta) | 123-126 |
| Número de páginas | 4 |
| Publicación | Cleft Palate-Craniofacial Journal |
| Volumen | 56 |
| N.º | 1 |
| DOI | |
| Estado | Published - ene 1 2019 |
Nota bibliográfica
Publisher Copyright:© 2018, American Cleft Palate-Craniofacial Association.
ASJC Scopus subject areas
- Oral Surgery
- Otorhinolaryngology
Huella
Profundice en los temas de investigación de 'Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome'. En conjunto forman una huella única.Citar esto
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