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.
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http://dx.doi.org/10.1177/1055665618773192 | DOI Listing |
Cleft Palate Craniofac J
January 2019
3 Department of Otolaryngology, Head and Neck Surgery, The University of Arkansas for Medical Sciences, Little Rock, AR, USA.
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.
View Article and Find Full Text PDFJ Coll Physicians Surg Pak
August 2003
Department of Dentistry, Combined Military Hospital, Muzaffarabad, Azad Kashmir, Pakistan.
We are presenting a case report of a male neonate brought in an emergency room with feeding inability and signs of respiratory difficulty due to oral passage blockade - a developmental anomaly caused by tongue-palate fusion. Surgical correction instantly relieved respiratory distress and established the normal oral feeding mechanism.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!