Literature DB >> 24124000

Elements of morphology: general terms for congenital anomalies.

Raoul C Hennekam1, Leslie G Biesecker, Judith E Allanson, Judith G Hall, John M Opitz, I Karen Temple, John C Carey.   

Abstract

An international group of clinicians working in the field of dysmorphology has established a process for the standardization of terms used to describe human morphology. The goals are to standardize these terms and develop consensus regarding their definitions. This project will increase the usefulness and precision of descriptions of the human phenotype and facilitate reliable comparisons of phenotypic findings among clinicians and researchers in medicine, developmental biology, and genetics. Here we define and illustrate the general terms that describe congenital anomalies as related to human conditions.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  anomaly; association; definitions; deformation; disruption; dysmorphology; dysplasia; genotype; malformation; morphology; nomenclature; phenotype; sequence; syndrome; variant

Mesh：

Year:  2013        PMID： 24124000     DOI： 10.1002/ajmg.a.36249

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


  17 in total

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2.  Nomenclature and definition in asymmetric regional body overgrowth.

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Journal:  Am J Med Genet A       Date:  2017-05-05       Impact factor: 2.802

Review 3.  Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.

Authors:  Andrea Poretti; Eugen Boltshauser; Thierry A G M Huisman
Journal:  Cerebellum       Date:  2016-02       Impact factor: 3.847

Review 4.  Cerebellar cysts in children: a pattern recognition approach.

Authors:  Eugen Boltshauser; Ianina Scheer; Thierry A G M Huisman; Andrea Poretti
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6.  Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.

Authors:  C A P F Alves; O Sherbini; F D'Arco; D Steel; M A Kurian; F C Radio; G B Ferrero; D Carli; M Tartaglia; T B Balci; N N Powell-Hamilton; S A Schrier Vergano; H Reutter; J Hoefele; R Günthner; E R Roeder; R O Littlejohn; D Lessel; S Lüttgen; C Kentros; K Anyane-Yeboa; C B Catarino; S Mercimek-Andrews; J Denecke; M J Lyons; T Klopstock; E J Bhoj; L Bryant; A Vanderver
Journal:  AJNR Am J Neuroradiol       Date:  2022-06-30       Impact factor: 4.966

7.  Elements of morphology: Standard terminology for the trunk and limbs.

Authors:  Leslie G Biesecker; Margaret P Adam; Brian Hon-Yin Chung; Kenjiro Kosaki; Leonie A Menke; Susan M White; John C Carey; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2022-09-05       Impact factor: 2.578

8.  Response to Hamosh et al.

Authors:  Leslie G Biesecker; Margaret P Adam; Fowzan S Alkuraya; Anne R Amemiya; Michael J Bamshad; Anita E Beck; James T Bennett; Lynne M Bird; John C Carey; Brian Chung; Robin D Clark; Timothy C Cox; Cynthia Curry; Mary Beth Palko Dinulos; William B Dobyns; Philip F Giampietro; Katta M Girisha; Ian A Glass; John M Graham; Karen W Gripp; Chad R Haldeman-Englert; Bryan D Hall; A Micheil Innes; Jennifer M Kalish; Kim M Keppler-Noreuil; Kenjiro Kosaki; Beth A Kozel; Ghayda M Mirzaa; John J Mulvihill; Malgorzata J M Nowaczyk; Roberta A Pagon; Kyle Retterer; Alan F Rope; Pedro A Sanchez-Lara; Laurie H Seaver; Joseph T Shieh; Anne M Slavotinek; Andrew K Sobering; Cathy A Stevens; David A Stevenson; Tiong Yang Tan; Wen-Hann Tan; Anne C Tsai; David D Weaver; Marc S Williams; Elaine Zackai; Yuri A Zarate
Journal:  Am J Hum Genet       Date:  2021-09-02       Impact factor: 11.025

9.  A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.

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Journal:  J Autism Dev Disord       Date:  2019-05

Review 10.  Impacts of High Environmental Temperatures on Congenital Anomalies: A Systematic Review.

Authors:  Marjan Mosalman Haghighi; Caradee Yael Wright; Julian Ayer; Michael F Urban; Minh Duc Pham; Melanie Boeckmann; Ashtyn Areal; Bianca Wernecke; Callum P Swift; Matthew Robinson; Robyn S Hetem; Matthew F Chersich
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