Literature DB >> 19125436

Elements of morphology: standard terminology for the head and face.

Judith E Allanson1, Christopher Cunniff, H Eugene Hoyme, Julie McGaughran, Max Muenke, Giovanni Neri.   

Abstract

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the craniofacies and define and illustrate the terms that describe the major characteristics of the cranium and face.

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Year:  2009        PMID: 19125436      PMCID: PMC2778021          DOI: 10.1002/ajmg.a.32612

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  6 in total

1.  Elements of morphology: standard terminology for the periorbital region.

Authors:  Bryan D Hall; John M Graham; Suzanne B Cassidy; John M Opitz
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

2.  Elements of morphology: standard terminology for the hands and feet.

Authors:  Leslie G Biesecker; Jon M Aase; Carol Clericuzio; Fiorella Gurrieri; I Karen Temple; Helga Toriello
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

3.  Elements of morphology: standard terminology for the lips, mouth, and oral region.

Authors:  John C Carey; M Michael Cohen; Cynthia J R Curry; Koenraad Devriendt; Lewis B Holmes; Alain Verloes
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

4.  Elements of morphology: introduction.

Authors:  Judith E Allanson; Leslie G Biesecker; John C Carey; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

5.  Elements of morphology: standard terminology for the ear.

Authors:  Alasdair Hunter; Jaime L Frias; Gabriele Gillessen-Kaesbach; Helen Hughes; Kenneth Lyons Jones; Louise Wilson
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

6.  Elements of morphology: standard terminology for the nose and philtrum.

Authors:  Raoul C M Hennekam; Valerie Cormier-Daire; Judith G Hall; Károly Méhes; Michael Patton; Roger E Stevenson
Journal:  Am J Med Genet A       Date:  2009-01       Impact factor: 2.802

  6 in total
  37 in total

Review 1.  New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.

Authors:  Paul N Schofield; John P Sundberg; Robert Hoehndorf; Georgios V Gkoutos
Journal:  Brief Funct Genomics       Date:  2011-09       Impact factor: 4.241

2.  Elements of morphology: standard terminology for the external genitalia.

Authors:  Raoul C M Hennekam; Judith E Allanson; Leslie G Biesecker; John C Carey; John M Opitz; Eric Vilain
Journal:  Am J Med Genet A       Date:  2013-05-06       Impact factor: 2.802

3.  Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Authors:  Christina Halgren; Nete M Nielsen; Lusine Nazaryan-Petersen; Asli Silahtaroglu; Ryan L Collins; Chelsea Lowther; Susanne Kjaergaard; Morten Frisch; Maria Kirchhoff; Karen Brøndum-Nielsen; Allan Lind-Thomsen; Yuan Mang; Zahra El-Schich; Claire A Boring; Mana M Mehrjouy; Peter K A Jensen; Christina Fagerberg; Lotte N Krogh; Jan Hansen; Thue Bryndorf; Claus Hansen; Michael E Talkowski; Mads Bak; Niels Tommerup; Iben Bache
Journal:  Am J Hum Genet       Date:  2018-05-24       Impact factor: 11.025

4.  Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues.

Authors:  Yann Heuzé; Nandini Singh; Claudio Basilico; Ethylin Wang Jabs; Greg Holmes; Joan T Richtsmeier
Journal:  Bone       Date:  2014-03-13       Impact factor: 4.398

5.  Diagnosis and management of Silver-Russell syndrome: first international consensus statement.

Authors:  Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine
Journal:  Nat Rev Endocrinol       Date:  2016-09-02       Impact factor: 43.330

6.  Application of array-based comparative genomic hybridization to pediatric neurologic diseases.

Authors:  Jung Hye Byeon; Eunsim Shin; Gun-Ha Kim; Kyungok Lee; Young Sook Hong; Joo Won Lee; Baik-Lin Eun
Journal:  Yonsei Med J       Date:  2014-01       Impact factor: 2.759

Review 7.  Choanal Atresia and Craniosynostosis: Development and Disease.

Authors:  Kate M Lesciotto; Yann Heuzé; Ethylin Wang Jabs; Joseph M Bernstein; Joan T Richtsmeier
Journal:  Plast Reconstr Surg       Date:  2018-01       Impact factor: 4.730

8.  The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

Authors:  Saskia M J Hopman; Johannes H M Merks; Corianne A J M de Borgie; Cora M Aalfs; Leslie G Biesecker; Trevor Cole; Charis Eng; Eric Legius; Eamonn R Maher; Max M van Noesel; Alain Verloes; David H Viskochil; Anja Wagner; Rosanna Weksberg; Huib N Caron; Raoul C M Hennekam
Journal:  Eur J Cancer       Date:  2013-07-12       Impact factor: 9.162

9.  Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.

Authors:  Yann Heuzé; Neus Martínez-Abadías; Jennifer M Stella; Eric Arnaud; Corinne Collet; Gemma García Fructuoso; Mariana Alamar; Lun-Jou Lo; Simeon A Boyadjiev; Federico Di Rocco; Joan T Richtsmeier
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2014-02-27

10.  Detailed assessment of the ear in Cornelia de Lange syndrome: comparison with a control sample using the new dysmorphology guidelines.

Authors:  Alasdair G W Hunter; Julianne S Collins; Matthew A Deardorff; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2009-10       Impact factor: 2.802

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