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

Producción científica: Articlerevisión exhaustiva

9 Citas (Scopus)

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 originalEnglish
Páginas (desde-hasta)123-126
Número de páginas4
PublicaciónCleft Palate-Craniofacial Journal
Volumen56
N.º1
DOI
EstadoPublished - ene 1 2019

Nota bibliográfica

Publisher Copyright:
© 2018, American Cleft Palate-Craniofacial Association.

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology

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