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第一、二腮弓综合征,第 2 部分:综合征。

Syndromes of the first and second branchial arches, part 2: syndromes.

机构信息

Division of Neuroradiology, Department of Radiology, Fletcher Allen Health Care, Burlington, Vermont, USA.

出版信息

AJNR Am J Neuroradiol. 2011 Feb;32(2):230-7. doi: 10.3174/ajnr.A2073. Epub 2010 Apr 1.

DOI:10.3174/ajnr.A2073
PMID:20360348
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7965699/
Abstract

A variety of congenital syndromes affecting the face occur due to defects involving the first and second BAs. Radiographic evaluation of craniofacial deformities is necessary to define aberrant anatomy, plan surgical procedures, and evaluate the effects of craniofacial growth and surgical reconstructions. High-resolution CT has proved vital in determining the nature and extent of these syndromes. The radiologic evaluation of syndromes of the first and second BA should begin first by studying a series of isolated defects (cleft lip with or without CP, micrognathia, and EAC atresia) that compose the major features of these syndromes and allow a more specific diagnosis. After discussion of these defects and the associated embryology, we discuss PRS, HFM, ACS, TCS, Stickler syndrome, and VCFS.

摘要

多种涉及第一和第二鳃弓的先天性综合征会影响面部。为了明确异常解剖结构、规划手术流程以及评估颅面生长和外科重建的效果,有必要对颅面畸形进行放射学评估。高分辨率 CT 已被证明对确定这些综合征的性质和范围至关重要。首先,应对第一和第二鳃弓综合征进行放射学评估,研究一系列构成这些综合征主要特征的孤立性缺陷(唇裂伴或不伴腭裂、小颌畸形和外耳道闭锁),从而做出更明确的诊断。在讨论这些缺陷及其相关胚胎学之后,我们将讨论 PRS、HFM、ACS、TCS、Stickler 综合征和 VCFS。

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Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome.先天性心脏病影响22q11.2缺失综合征中的局部脑回形成。
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Treacher Collins syndrome: etiology, pathogenesis and prevention.特雷彻·柯林斯综合征:病因、发病机制与预防
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Analysis of the vitreous membrane in a case of type 1 Stickler syndrome.1型斯蒂克勒综合征一例的玻璃体膜分析
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Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.100例22q11缺失综合征患者的自闭症、注意力缺陷多动障碍、智力障碍及行为问题
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