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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.

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。

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本文引用的文献

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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.
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.

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