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伴有法洛四联症的皮埃尔·罗宾序列征：一项罕见发现。

Pierre Robin sequence with tetralogy of Fallot: An unusual finding.

作者信息

Javed Nismat, Malik Jahanzeb

机构信息

Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan.

Department of Cardiology, Rawalpindi Institute of Cardiology, Rawalpindi, Pakistan.

出版信息

Int J Health Sci (Qassim). 2021 Mar-Apr;15(2):58-60.

PMID:33708045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7934134/
Abstract

Pierre Robin sequence has been known to present with multiple somatic abnormalities. It is known that the syndrome impairs cardiogenesis. However, the reason for this is unknown. Impaired cardiogenesis manifests in the form of various defects such as ventricular septal defect and atrial septal defect but the presence of tetralogy of Fallot is very rare.

摘要

已知皮埃尔·罗宾序列会伴有多种躯体异常。众所周知，该综合征会损害心脏发生。然而，其原因尚不清楚。心脏发生受损表现为各种缺陷，如室间隔缺损和房间隔缺损，但法洛四联症的情况非常罕见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/d9bb93812ea2/IJHS-15-58-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/f94ec6933091/IJHS-15-58-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/0c70a8e23af3/IJHS-15-58-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/0fe29fdd32f9/IJHS-15-58-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/d9bb93812ea2/IJHS-15-58-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/f94ec6933091/IJHS-15-58-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/0c70a8e23af3/IJHS-15-58-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/0fe29fdd32f9/IJHS-15-58-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2a6/7934134/d9bb93812ea2/IJHS-15-58-g004.jpg

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本文引用的文献

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Pierre Robin Sequence.皮埃尔·罗宾序列征
Clin Plast Surg. 2019 Apr;46(2):249-259. doi: 10.1016/j.cps.2018.11.010. Epub 2019 Feb 8.
2
Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.新发现的t(2;17)(p15;q24.2)染色体易位与性腺发育不全和多种躯体异常相关。
Tohoku J Exp Med. 2018 Jul;245(3):187-191. doi: 10.1620/tjem.245.187.
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
Genetic Origins of Tetralogy of Fallot.法洛四联症的遗传起源
Cardiol Rev. 2018 Mar/Apr;26(2):86-92. doi: 10.1097/CRD.0000000000000170.
5
BMPR1B mutation causes Pierre Robin sequence.BMPR1B基因突变导致皮埃尔·罗宾序列征。
Oncotarget. 2017 Apr 18;8(16):25864-25871. doi: 10.18632/oncotarget.16531.
6
Tetralogy of Fallot: Preoperative assessment with MR and CT imaging.法洛四联症：磁共振成像和计算机断层扫描成像的术前评估
Diagn Interv Imaging. 2016 May;97(5):531-41. doi: 10.1016/j.diii.2016.01.009. Epub 2016 Mar 9.
7
A review of craniofacial disorders caused by spliceosomal defects.由剪接体缺陷引起的颅面疾病综述。
Clin Genet. 2015 Nov;88(5):405-15. doi: 10.1111/cge.12596. Epub 2015 May 1.
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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。
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