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脑桥被盖部发育不良中的椎体异常与VACTERL综合征：一例儿科病例报告

Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report.

作者信息

Klapper Rachel Jane, Strobel Joshua, Hebert Chance, Venkataraj Maamannan, Xu Tailong, Arevalo Espejo Octavio

机构信息

Department of Radiology, Louisiana State University Health Sciences Center-Shreveport, Shreveport, LA 71103, United States.

Louisiana State University Health Shreveport, School of Medicine, Shreveport, LA 71103, United States.

出版信息

BJR Case Rep. 2023 Dec 13;10(1):uaad002. doi: 10.1093/bjrcr/uaad002. eCollection 2024 Jan.

DOI:10.1093/bjrcr/uaad002
PMID:38352255
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10860506/
Abstract

This case report highlights vertebral segmental anomalies and the fact that the child presented has a rare neurologic condition called pontine tegmental cap dysplasia. Additionally, this case aims to educate learners in developing a differential diagnosis for vertebral and cardiac anomalies such as VACTERL syndromes and common syndromes associated with butterfly vertebrae in children and adolescents.

摘要

本病例报告突出了椎体节段性异常，以及该患儿患有一种名为脑桥被盖部发育异常的罕见神经系统疾病这一事实。此外，本病例旨在教育学习者如何针对儿童和青少年的椎体及心脏异常（如VACTERL综合征和与蝴蝶椎相关的常见综合征）进行鉴别诊断。

相似文献

1
Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report.脑桥被盖部发育不良中的椎体异常与VACTERL综合征：一例儿科病例报告
BJR Case Rep. 2023 Dec 13;10(1):uaad002. doi: 10.1093/bjrcr/uaad002. eCollection 2024 Jan.
2
An Incidental Finding of Butterfly Vertebrae in a Case of Vertebral Defects, Anal Atresia, Cardiac Defects, Tracheo-Esophageal Fistula, Renal Anomalies, and Limb Abnormalities (VACTERL).在一例患有椎体缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏异常和肢体异常（VACTERL综合征）的病例中偶然发现蝴蝶椎。
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The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.VACTERL综合征中椎体异常的遗传图谱及临床意义
J Med Genet. 2016 Jul;53(7):431-7. doi: 10.1136/jmedgenet-2015-103554. Epub 2016 Apr 15.
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A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.一例伴有眼耳脊椎综合征合并症的脑桥被盖部发育不良病例。
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Indian J Radiol Imaging. 2018 Jan-Mar;28(1):18-21. doi: 10.4103/ijri.IJRI_25_17.

本文引用的文献

1
Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study.先天性脊柱缺陷相关畸形的发病率和高风险增加：一项基于人群的研究。
J Pediatr Orthop. 2022;42(5):e538-e543. doi: 10.1097/BPO.0000000000002124.
2
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.蝴蝶椎：文献系统综述与分析
Global Spine J. 2019 Sep;9(6):666-679. doi: 10.1177/2192568218801016. Epub 2018 Sep 18.
3
Case 266: Pontine Tegmental Cap Dysplasia.病例 266：桥脑被盖帽畸形。
Radiology. 2019 Jun;291(3):814-818. doi: 10.1148/radiol.2018162304.
4
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.VACTERL综合征中椎体异常的遗传图谱及临床意义
J Med Genet. 2016 Jul;53(7):431-7. doi: 10.1136/jmedgenet-2015-103554. Epub 2016 Apr 15.
5
A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.一例伴有眼耳脊椎综合征合并症的脑桥被盖部发育不良病例。
Brain Dev. 2015 Jan;37(1):171-4. doi: 10.1016/j.braindev.2014.02.007. Epub 2014 Mar 17.
6
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.桥脑被盖发育不良：3 例青少年患者的发育和认知结局。
Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36.
7
Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration.脑桥被盖部发育不全：一种由神经元迁移缺陷引起的后脑畸形。
Neurology. 2010 Jun 1;74(22):1835. doi: 10.1212/WNL.0b013e3181e0f7f8.
8
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.脑桥被盖帽发育不全：一种具有轴突导向缺陷的新型脑畸形。
Brain. 2007 Sep;130(Pt 9):2258-66. doi: 10.1093/brain/awm188. Epub 2007 Aug 9.