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Syndromes of the First and Second Branchial Arches, Part 1: Embryology and Characteristic Defects

Syndromes of the First and Second Branchial Arches, Part 1: Embryology and Characteristic Defects SUMMARY: 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 BAs should begin first by studying a series of isolated defects: CL with or without CP, micrognathia, and EAC atresia, which compose the major features of these syndromes and allow more specific diagnosis. After discussion of these defects and the associated embryology, we proceed to discuss the VCFS, PRS, ACS, TCS, Stickler syndrome, and HFM. Abbreviations ACS auriculocondylar syndrome BA branchial arch CL cleft lip CL/P cleft lip/palate CP cleft palate EAC external auditory canal HFM hemifacial microsomia MDCT multidetector CT PRS Pierre Robin sequence TCS Treacher Collins syndrome VCFS velocardiofacial syndrome http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Syndromes of the First and Second Branchial Arches, Part 1: Embryology and Characteristic Defects

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Publisher
American Journal of Neuroradiology
Copyright
Copyright © 2011 by the American Society of Neuroradiology.
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A2072
pmid
20299437
Publisher site
See Article on Publisher Site

Abstract

SUMMARY: 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 BAs should begin first by studying a series of isolated defects: CL with or without CP, micrognathia, and EAC atresia, which compose the major features of these syndromes and allow more specific diagnosis. After discussion of these defects and the associated embryology, we proceed to discuss the VCFS, PRS, ACS, TCS, Stickler syndrome, and HFM. Abbreviations ACS auriculocondylar syndrome BA branchial arch CL cleft lip CL/P cleft lip/palate CP cleft palate EAC external auditory canal HFM hemifacial microsomia MDCT multidetector CT PRS Pierre Robin sequence TCS Treacher Collins syndrome VCFS velocardiofacial syndrome

Journal

American Journal of NeuroradiologyAmerican Journal of Neuroradiology

Published: Jan 1, 2011

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