Robbins Alexa, Zarate Yuri A, Hartzell Larry D
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.
Cleft Palate Craniofac J. 2019 Jan;56(1):123-126. doi: 10.1177/1055665618773192. Epub 2018 Apr 30.
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.
本报告描述了一名患有舌腭周缘融合并伴有腭裂和牙槽嵴带的新生儿男性的临床表现。口腔内粘连松解术后,该患者被诊断为皮埃尔·罗宾序列征。有唇腭裂家族史,干扰素调节因子6(IRF6)测序显示杂合变异,确诊为范德伍德综合征。IRF6的破坏导致口面部发育异常,包括小下颌、口腔内粘连以及舌腭融合,进而导致舌后坠伴气道阻塞和腭裂。