Literature DB >> 20360348

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

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 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.

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Year:  2010        PMID: 20360348      PMCID: PMC7965699          DOI: 10.3174/ajnr.A2073

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


  48 in total

1.  Stickler syndrome: clinical characteristics and diagnostic criteria.

Authors:  Peter S Rose; Howard P Levy; Ruth M Liberfarb; Joie Davis; Y Szymko-Bennett; Benjamin I Rubin; Ekaterini Tsilou; Andrew J Griffith; Clair A Francomano
Journal:  Am J Med Genet A       Date:  2005-10-15       Impact factor: 2.802

2.  Question mark ears and post-auricular tags.

Authors:  Erica H Gerkes; Conny M A van Ravenswaaij; Anthonie J van Essen
Journal:  Eur J Med Genet       Date:  2008-01-30       Impact factor: 2.708

3.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

Review 4.  Midface anomalies in children.

Authors:  L H Lowe; T N Booth; J M Joglar; N K Rollins
Journal:  Radiographics       Date:  2000 Jul-Aug       Impact factor: 5.333

Review 5.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

Review 6.  Treacher Collins syndrome.

Authors:  M J Dixon
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

7.  Treacher Collins syndrome: early surgical treatment of orbitomalar malformations.

Authors:  R Roddi; J M Vaandrager; J C van der Meulen
Journal:  J Craniofac Surg       Date:  1995-05       Impact factor: 1.046

8.  Early craniofacial morphology and growth in children with nonsyndromic Robin Sequence.

Authors:  N V Hermann; S Kreiborg; T A Darvann; B L Jensen; E Dahl; S Bolund
Journal:  Cleft Palate Craniofac J       Date:  2003-03

9.  Deletion 22q11.2 syndrome--implications for the intensive care physician.

Authors:  Vishal Jatana; Jonathan Gillis; Boyd H Webster; Lesley C Adès
Journal:  Pediatr Crit Care Med       Date:  2007-09       Impact factor: 3.624

10.  Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.

Authors: 
Journal:  Nat Genet       Date:  1996-02       Impact factor: 38.330

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  11 in total

Review 1.  Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.

Authors:  David E Clouthier; Maria Rita Passos-Bueno; Andre L P Tavares; Stanislas Lyonnet; Jeanne Amiel; Christopher T Gordon
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 2.  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

3.  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

4.  Coexistence of bilateral first and second branchial arch anomalies.

Authors:  J S Thakur; Vidya Shekar; Manika Saluja; N K Mohindroo
Journal:  BMJ Case Rep       Date:  2013-04-10

5.  Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2.

Authors:  David A Roeseler; Shrikesh Sachdev; Desire M Buckley; Trupti Joshi; Doris K Wu; Dong Xu; Mark Hannink; Samuel T Waters
Journal:  PLoS One       Date:  2012-11-08       Impact factor: 3.240

6.  Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.

Authors:  Daniela Cardoso Pereira; Luiz Claudio Silva Bussamra; Edward Araujo Júnior; Carolina Leite Drummond; Luciano Marcondes Machado Nardozza; Antonio Fernandes Moron; José Mendes Aldrighi
Journal:  Case Rep Obstet Gynecol       Date:  2013-04-04

7.  Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

Authors:  Rajoo Ramachandran; Sellappan Rajamanickam Babu; Subramanian Ilanchezhian; Prabhu Radhan Radhakrishnan
Journal:  J Clin Imaging Sci       Date:  2015-01-30

Review 8.  The Special Developmental Biology of Craniofacial Tissues Enables the Understanding of Oral and Maxillofacial Physiology and Diseases.

Authors:  Manuel Weber; Falk Wehrhan; James Deschner; Janina Sander; Jutta Ries; Tobias Möst; Aline Bozec; Lina Gölz; Marco Kesting; Rainer Lutz
Journal:  Int J Mol Sci       Date:  2021-01-28       Impact factor: 5.923

9.  A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.

Authors:  Zena T Wolf; Elizabeth J Leslie; Boaz Arzi; Kartika Jayashankar; Nili Karmi; Zhonglin Jia; Douglas J Rowland; Amy Young; Noa Safra; Saundra Sliskovic; Jeffrey C Murray; Claire M Wade; Danika L Bannasch
Journal:  PLoS Genet       Date:  2014-04-03       Impact factor: 5.917

10.  Chromosomal microarray analysis in the prenatal diagnosis of orofacial clefts: Experience from a single medical center in mainland China.

Authors:  Han Jin; Cui Yingqiu; Liu Zequn; Huang Yanjun; Zhang Yunyan; Zhao Shufan; Chen Yiyang; Li Ru; Zhen Li; Zhang Yongling; Wang Hongtao; Liao Can
Journal:  Medicine (Baltimore)       Date:  2018-08       Impact factor: 1.817

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