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

Alexa Robbins1, Yuri A Zarate2, Larry D Hartzell3

  • 11 College of Medicine, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|May 1, 2018
PubMed

Insights

Van der Woude syndrome, a genetic disorder, can cause significant orofacial abnormalities in newborns, including tongue-palate fusion and cleft palate. Early diagnosis and intervention are crucial for managing airway obstruction and developmental challenges.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Craniofacial Biology

Background:

  • Pierre Robin sequence is characterized by micrognathia, glossoptosis, and airway obstruction.
  • Cleft palate and intraoral adhesions are significant congenital anomalies impacting feeding and breathing.
  • Van der Woude syndrome is an autosomal dominant disorder associated with cleft lip/palate and paramedian lip pits, often linked to IRF6 gene mutations.

Observation:

  • A newborn male presented with circumferential tongue-palate fusion, cleft palate, and alveolar bands.
  • The patient exhibited micrognathia and intraoral adhesions, consistent with Pierre Robin sequence after surgical lysis.
  • Family history revealed a predisposition to cleft lip and palate.

Findings:

  • Genetic sequencing identified a heterozygous variant in the interferon regulatory factor 6 (IRF6) gene.
  • This IRF6 variant confirmed the diagnosis of van der Woude syndrome.
  • The IRF6 disruption was directly linked to the observed abnormal orofacial development, including tongue-palate fusion and cleft palate.

Implications:

  • Understanding the genetic basis of van der Woude syndrome aids in accurate diagnosis and genetic counseling.
  • Early identification of IRF6-related orofacial clefting syndromes can guide timely surgical and supportive care.
  • This case highlights the complex interplay between genetic mutations and craniofacial morphogenesis, impacting neonatal airway and feeding.

Keywords:
IRF6Pierre Robin sequenceclefttongue-palate fusionvan der Woude syndrome

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