Literature DB >> 20299437

Syndromes of the first and second branchial arches, part 1: embryology and characteristic defects.

J M Johnson1, G Moonis, G E Green, R Carmody, H N Burbank.   

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 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.

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Year:  2010        PMID: 20299437      PMCID: PMC7964959          DOI: 10.3174/ajnr.A2072

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  32 in total

1.  Embryology and anatomy of the neck.

Authors:  J A Stone; R E Figueroa
Journal:  Neuroimaging Clin N Am       Date:  2000-02       Impact factor: 2.264

2.  Preoperative evaluation of external auditory canal atresia on high-resolution CT.

Authors:  Eva Maria Gassner; Ammar Mallouhi; Werner R Jaschke
Journal:  AJR Am J Roentgenol       Date:  2004-05       Impact factor: 3.959

Review 3.  Role of 3D CT in the evaluation of the temporal bone.

Authors:  Girish M Fatterpekar; Amish H Doshi; Mohit Dugar; Bradley N Delman; Thomas P Naidich; Peter M Som
Journal:  Radiographics       Date:  2006-10       Impact factor: 5.333

Review 4.  Branchial cleft and arch anomalies in children.

Authors:  John H T Waldhausen
Journal:  Semin Pediatr Surg       Date:  2006-05       Impact factor: 2.754

5.  Congenital mandibular hypoplasia: analysis and classification.

Authors:  Davinder J Singh; Scott P Bartlett
Journal:  J Craniofac Surg       Date:  2005-03       Impact factor: 1.046

6.  Genetic Factors and Orofacial Clefting.

Authors:  Andrew C Lidral; Lina M Moreno; Steven A Bullard
Journal:  Semin Orthod       Date:  2008-06       Impact factor: 0.970

7.  Congenital nasal masses: CT and MR imaging features in 16 cases.

Authors:  A J Barkovich; P Vandermarck; M S Edwards; P H Cogen
Journal:  AJNR Am J Neuroradiol       Date:  1991 Jan-Feb       Impact factor: 3.825

Review 8.  Syndromes of the first and second pharyngeal arches: A review.

Authors:  Maria Rita Passos-Bueno; Camila C Ornelas; Roberto D Fanganiello
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

9.  Treacher Collins syndrome: etiology, pathogenesis and prevention.

Authors:  Paul A Trainor; Jill Dixon; Michael J Dixon
Journal:  Eur J Hum Genet       Date:  2008-12-24       Impact factor: 4.246

10.  CT evaluation of congenital aural atresia: what the radiologist and surgeon need to know.

Authors:  J W Yeakley; R A Jahrsdoerfer
Journal:  J Comput Assist Tomogr       Date:  1996 Sep-Oct       Impact factor: 1.826

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  9 in total

Review 1.  Imaging neonates and children with Pierre Robin sequence before and after mandibular distraction osteogenesis: what the craniofacial surgeon wants to know.

Authors:  Arthur B Meyers; Markus G Zei; Arlen D Denny
Journal:  Pediatr Radiol       Date:  2015-03-20

2.  Oculoauriculovertebral spectrum and maxillary sinus volumes : CT-based comparative evaluation.

Authors:  Elisabeth Hofmann; Andreas Detterbeck; Taras Chepura; Christian Kirschneck; Matthias Schmid; Ursula Hirschfelder
Journal:  J Orofac Orthop       Date:  2018-06-08       Impact factor: 1.938

Review 3.  Developmental epigenetics of the murine secondary palate.

Authors:  Ratnam S Seelan; Partha Mukhopadhyay; M Michele Pisano; Robert M Greene
Journal:  ILAR J       Date:  2012

4.  Complete Midline Cleft of Lower Lip, Mandible, Tongue, Floor of Mouth with Neck Contracture: A Case Report and Review of Literature.

Authors:  Anantheswar Y N Rao
Journal:  Craniomaxillofac Trauma Reconstr       Date:  2015-04-08

5.  Nonsyndromic mandibular symphysis cleft.

Authors:  Leela Krishna Guttikonda; Koteswara Rao Nadella; Vijayalakshmi Uppaluru; Rama Mohan Kodali; Ranganadh Nallamothu
Journal:  Case Rep Dent       Date:  2014-03-03

6.  Bilateral condylar anomaly: A case report and review.

Authors:  T R Prasanna; Suhas Setty; V Vadiraj Udupa; D S Sahana
Journal:  J Oral Maxillofac Pathol       Date:  2015 Sep-Dec

7.  A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.

Authors:  Joana G P Jacinto; Irene M Häfliger; Marco Bernardini; Maria Teresa Mandara; Ezio Bianchi; Marilena Bolcato; Noemi Romagnoli; Arcangelo Gentile; Cord Drögemüller
Journal:  J Vet Intern Med       Date:  2021-11-19       Impact factor: 3.333

8.  Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Authors:  Elisabetta Flex; Andrea Ciolfi; Viviana Caputo; Valentina Fodale; Chiara Leoni; Daniela Melis; Maria Francesca Bedeschi; Laura Mazzanti; Antonio Pizzuti; Marco Tartaglia; Giuseppe Zampino
Journal:  J Med Genet       Date:  2013-05-17       Impact factor: 6.318

Review 9.  The Role of Sonic Hedgehog in Craniofacial Patterning, Morphogenesis and Cranial Neural Crest Survival.

Authors:  Sebastian Dworkin; Yeliz Boglev; Harley Owens; Stephen J Goldie
Journal:  J Dev Biol       Date:  2016-08-03
  9 in total

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