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

Cleft Palate Craniofac J. 2019 Jan;56(1):123-126. doi: 10.1177/1055665618773192. Epub 2018 Apr 30.

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.

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

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Cleft Lip*
  • Cleft Palate*
  • Cysts*
  • Humans
  • Infant, Newborn
  • Interferon Regulatory Factors
  • Lip / abnormalities*
  • Male
  • Pierre Robin Syndrome*
  • Tongue

Substances

  • IRF6 protein, human
  • Interferon Regulatory Factors

Supplementary concepts

  • Van der Woude syndrome