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Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.
Cleft Palate Craniofac J. 2019 01; 56(1):123-126.CP

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.

Authors+Show Affiliations

1 College of Medicine, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.2 Section of Genetics and Metabolism, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.3 Department of Otolaryngology, Head and Neck Surgery, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29708799

Citation

Robbins, Alexa, et al. "Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van Der Woude Syndrome." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 56, no. 1, 2019, pp. 123-126.
Robbins A, Zarate YA, Hartzell LD. Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. Cleft Palate Craniofac J. 2019;56(1):123-126.
Robbins, A., Zarate, Y. A., & Hartzell, L. D. (2019). Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 56(1), 123-126. https://doi.org/10.1177/1055665618773192
Robbins A, Zarate YA, Hartzell LD. Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van Der Woude Syndrome. Cleft Palate Craniofac J. 2019;56(1):123-126. PubMed PMID: 29708799.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome. AU - Robbins,Alexa, AU - Zarate,Yuri A, AU - Hartzell,Larry D, Y1 - 2018/04/30/ PY - 2018/5/1/pubmed PY - 2018/5/1/medline PY - 2018/5/1/entrez KW - IRF6 KW - Pierre Robin sequence KW - cleft KW - tongue-palate fusion KW - van der Woude syndrome SP - 123 EP - 126 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac. J. VL - 56 IS - 1 N2 - 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. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/29708799/Combined_Tongue_Palate_Fusion_With_Alveolar_Bands_in_a_Patient_With_Pierre_Robin_Sequence_and_Van_der_Woude_Syndrome_ L2 - http://journals.sagepub.com/doi/full/10.1177/1055665618773192?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -