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综合征性皮埃尔·罗宾序列征——一种与多种心脏缺陷和III型斯-利综合征相关的罕见表现。

Syndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome.

作者信息

Akhtar Soubia, Wasif Muhammad, Afzal Yumna, Shahab Iqra, Dhanani Rahim, Shaikh Abdul Rauf

机构信息

Dr Ziauddin University hospital, Karachi, Pakistan.

出版信息

Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1325-1327. doi: 10.1007/s12070-023-04307-x. Epub 2023 Oct 31.

DOI:10.1007/s12070-023-04307-x
PMID:38440550
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10909042/
Abstract

Pierre Robin Sequence (PRS), a rare congenital disorder, is a triad of micrognathia, glossoptosis, and tongue based airway obstruction (TBSO). It may occur as isolated anomaly (iPRS) or as a part of a syndrome (sPRS), like that seen in association with Stickler Syndrome. Approximately 20% of children with PRS have congenital heart diseases. To the best of our knowledge this case of a one-day old infant is the first one to be reported as having two heart defects; patent ductus arteriosus and patent foramen ovale in Pierre Robbin Sequence child.

摘要

皮埃尔·罗宾序列征(PRS)是一种罕见的先天性疾病,由小下颌、舌后坠和舌根气道阻塞(TBSO)三联征组成。它可能作为孤立异常(iPRS)出现,也可能是综合征(sPRS)的一部分,如与斯-利综合征相关的情况。约20%的PRS患儿患有先天性心脏病。据我们所知,这例1日龄婴儿是首例被报道患有两种心脏缺陷的皮埃尔·罗宾序列征患儿,即动脉导管未闭和卵圆孔未闭。

相似文献

1
Syndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome.综合征性皮埃尔·罗宾序列征——一种与多种心脏缺陷和III型斯-利综合征相关的罕见表现。
Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1325-1327. doi: 10.1007/s12070-023-04307-x. Epub 2023 Oct 31.
2
Associated syndromes in patients with Pierre Robin Sequence.Pierre Robin序列患者的相关综合征。
Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30.
3
Pierre Robin sequence: A comprehensive narrative review of the literature over time.皮埃尔·罗宾序列:文献随时间的综合叙述性回顾。
J Stomatol Oral Maxillofac Surg. 2018 Nov;119(5):419-428. doi: 10.1016/j.jormas.2018.05.002. Epub 2018 May 17.
4
Pierre robin sequence.皮埃尔·罗宾序列。
Semin Plast Surg. 2012 May;26(2):76-82. doi: 10.1055/s-0032-1320065.
5
Stickler syndrome in Pierre-Robin sequence prenatal ultrasonographic diagnosis and postnatal therapy: two cases report.Pierre-Robin 序列中黏多糖贮积症的产前超声诊断及产后治疗:两例报告。
Eur Rev Med Pharmacol Sci. 2010 Dec;14(12):1051-4.
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Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation.经纤维光导鼻气管插管成功救治伴严重上气道梗阻的皮埃尔·罗宾序列征病例报告
BMC Anesthesiol. 2017 Mar 14;17(1):43. doi: 10.1186/s12871-017-0336-0.
7
Tri-lobed Tongue: Rare Manifestation Accompany With Pierre Robin Sequence.三叶舌:罕见表现伴随 Pierre Robin 序列。
J Craniofac Surg. 2023 May 1;34(3):e228-e230. doi: 10.1097/SCS.0000000000009116. Epub 2022 Nov 2.
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Isolated left ventricular noncompaction in a newborn with Pierre-Robin sequence.患有Pierre-Robin序列征的新生儿孤立性左心室心肌致密化不全。
Pediatr Cardiol. 2013 Feb;34(2):452-4. doi: 10.1007/s00246-012-0294-8. Epub 2012 Mar 25.
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Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.下颌骨牵引成骨术作为 Pierre Robin 序列婴儿的主要干预手段。
Ann Plast Surg. 2021 Jun 1;86(6S Suppl 5):S545-S549. doi: 10.1097/SAP.0000000000002702.
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Pierre Robin Sequence: Diagnostic Difficulties Faced while Differentiating Isolated and Syndromic Forms.Pierre Robin 序列:鉴别孤立型和综合征型时面临的诊断困难。
Acta Medica (Hradec Kralove). 2020;63(2):86-90. doi: 10.14712/18059694.2020.23.

本文引用的文献

1
A case of Pierre Robin syndrome in a child with no soft palate and complications from pneumonia in Bangladesh.孟加拉国一名患有Pierre Robin综合征且无软腭的儿童并发肺炎的病例。
Clin Case Rep. 2023 May 15;11(5):e7350. doi: 10.1002/ccr3.7350. eCollection 2023 May.
2
Pierre Robin sequence with tetralogy of Fallot: An unusual finding.伴有法洛四联症的皮埃尔·罗宾序列征:一项罕见发现。
Int J Health Sci (Qassim). 2021 Mar-Apr;15(2):58-60.
3
Associated syndromes in patients with Pierre Robin Sequence.Pierre Robin序列患者的相关综合征。
Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30.
4
Mortality in Robin sequence: identification of risk factors.Robin 序列的死亡率:危险因素的识别。
Eur J Pediatr. 2018 May;177(5):781-789. doi: 10.1007/s00431-018-3111-4. Epub 2018 Feb 28.
5
Heart Failure in an Infant With Pierre Robin Sequence: Is There a Diagnostic Test to Aid in Treatment Planning and Monitoring?患有皮埃尔-罗宾序列征的婴儿心力衰竭:是否有有助于治疗规划和监测的诊断测试?
Cleft Palate Craniofac J. 2015 Nov;52(6):e205-9. doi: 10.1597/14-265. Epub 2014 Dec 22.
6
Regional variations in the presentation and surgical management of Pierre Robin sequence.皮埃尔·罗宾序列征的临床表现及手术治疗的区域差异
Laryngoscope. 2014 Dec;124(12):2818-25. doi: 10.1002/lary.24782. Epub 2014 Jun 26.
7
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.马方综合征、眼型变异及眼科医生的关键诊断作用。
Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16.
8
Prognosis of airway obstruction and feeding difficulty in the Robin sequence.罗宾序列征中气道阻塞和喂养困难的预后
Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):319-24. doi: 10.1016/j.ijporl.2005.07.003. Epub 2005 Aug 19.
9
Congenital heart disease in the Pierre Robin syndrome.皮埃尔·罗宾综合征中的先天性心脏病。
Pediatr Cardiol. 1982;2(4):307-9. doi: 10.1007/BF02426978.