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

Robbins Alexa; Zarate Yuri A.; Hartzell Larry D.

首页> 外文期刊>The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association >Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome

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

机译：与Pierre Robin序列和van der Woude综合征的患者牙龈带的组合舌腭融合

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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.

机译：本报告描述了一种与腭裂和肺泡带相关的周向舌腭融合的新生儿。在内部粘连裂解后，患者被诊断为Pierre Robin序列。注意到唇裂和腭裂的家族史，并且干扰素调节因子6（IRF6）测序揭示了杂合变体，证实van der Woude综合征的诊断。 IRF6的破坏导致异常的oroface发育，包括MicrognAthia和口腔粘连以及舌腭融合，然后导致气道阻塞和腭裂的起伏。

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来源
《The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association》 |2019年第1期|共4页
作者
Robbins Alexa; Zarate Yuri A.; Hartzell Larry D.;
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作者单位

Univ Arkansas Med Sci Coll Med Little Rock AR 72202 USA;

Univ Arkansas Med Sci Sect Genet &

Metab Little Rock AR 72202 USA;

Univ Arkansas Med Sci Dept Otolaryngol Head &

Neck Surg 1 Childrens Way Slot 836 Little Rock AR;

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原文格式 PDF
正文语种 eng
中图分类口腔科学;
关键词
tongue-palate fusion; van der Woude syndrome; IRF6; Pierre Robin sequence; cleft;

机译：舌腭融合;van der woude综合征;IRF6;Pierre Robin序列;裂缝;

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专利

1. Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome [J] . Robbins Alexa, Zarate Yuri A., Hartzell Larry D. The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association . 2019,第1期

机译：与Pierre Robin序列和van der Woude综合征的患者牙龈带的组合舌腭融合
2. Neonatal Permanent Jaw Constriction Because of Oral Synechiae and Pierre Robin Sequence in a Child With van der Woude Syndrome [J] . E. Denion M.D. N. Capon M.D. V. Martinot Ph.D. and P. Pellerin Ph.D. The Cleft Palate-Craniofacial Journal . 2002,第1期

机译：Van der Woude综合征患儿因口腔粘连和Pierre Robin序列而导致的新生儿永久性下颌缩窄
3. Neonatal permanent jaw constriction because of oral synechiae and Pierre Robin sequence in a child with van der Woude syndrome. [J] . Denion E, Capon N, Martinot V, The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association . 2002,第1期

机译：范德伍德综合征患儿因口腔粘连和皮埃尔·罗宾序列而导致新生儿永久性颌骨狭窄。
4. Tracheostomy versus Mandibular Distraction in Patients with Pierre Robin Sequence [C] . S.B. DEAN, R. RAHBAR, A.F. DRAKE, International Society of Craniofacial Surgery . 2005

机译：Pierre Robin序列患者的气管造口术与下颌分心
5. Sequence and analysis of approximately 0.5 mega-basepair of the DiGeorge Syndrome Critical Region in human chromosome 22 band q11 and a syntenic mouse BAC [D] . Chen, Feng. 1997

机译：人染色体22带q11和同系小鼠BAC中约0.5兆碱基对的DiGeorge综合征关键区域的序列和分析
6. A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia Pierre Robin Sequence and Klippel Feil Deformity [O] . Domenico Roberti, Renata Conforti, Teresa Giugliano, 2018

机译：一种新型的12q13.2-q13.3微缺失综合症具有钻石布莱克范贫血皮埃尔·罗宾序列和Klippel畸形的综合特征
7. Ultrastructural analysis of glands located in the wall of the congenital fistulae of the lower lip of patients with Van der Woude syndrome Análise ultra-estrutural das glândulas localizadas na parede da fístula congênita de lábio inferior de pacientes com a síndrome de Van der Woude [O] . Mirian Aparecida Onofre, Heli Benedito Brosco, Rumio Taga 2003

机译：Van der Woude综合征患者下唇先天性瘘管壁腺体的超微结构分析análise超发育性溃疡病的局部性发育不良性病的发病率和性病变的发病率de Vanien Woude

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

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