Elements of Morphology: Introduction

被引：95

作者：

Allanson, Judith E. ^{[1
]}

Biesecker, Leslie G. ^{[2
]}

Carey, John C. ^{[3
]}

Hennekam, Raoul C. M. ^{[4
,5
]}

机构：

[1] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

[2] NHGRI, NIH, Bethesda, MD 20892 USA

[3] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT USA

[4] UCL, Great Ormond St Hosp Children, Inst Child Hlth, Clin & Mol Genet Unit, London, England

[5] UVA, Acad Med Ctr, Dept Paediat, Amsterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 01期

关键词：

nomenclature; definitions; morphology; dysmorphology; birth defects; malformations; minor anomalies; common variants;

D O I：

10.1002/ajmg.a.32601

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 describe the general background of the project and the various issues we have tried to take into account in defining the terms. Published 2009 Wiley-Liss, Inc.

引用

页码：2 / 5

页数：4

共 6 条

[1] Elements of Morphology: Standard Terminology for the Head and Face [J].

Allanson, Judith E. ;

Cunniff, Christopher ;

Hoyme, H. Eugene ;

McGaughran, Julie ;

Muenke, Max ;

Neri, Giovanni .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :6-28

[2] Elements of Morphology: Standard Terminology for the Hands and Feet [J].

Biesecker, Leslie G. ;

Aase, Jon M. ;

Clercuzio, Carol ;

Gurrieri, Fiorella ;

Temple, I. Karen ;

Toriello, Helga .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :93-127

[3] Elements of Morphology: Standard Terminology for the Lips, Mouth, and Oral Region [J].

Carey, John C. ;

Cohen, M. Michael, Jr. ;

Curry, Cynthia J. R. ;

Devriendt, Koenraad ;

Holmes, Lewis B. ;

Verloes, Alain .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :77-92

[4] Elements of Morphology: Standard Terminology for the Periorbital Region [J].

Hall, Bryan D. ;

Graham, John M., Jr. ;

Cassidy, Suzanne B. ;

Opitz, John M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :29-39

[5] Elements of Morphology: Standard Terminology for the Nose and Philtrum [J].

Hennekam, Raoul C. M. ;

Cormier-Daire, Valerie ;

Hal, Judith G. ;

Mehes, Karoly ;

Patton, Michael ;

Stevenson, Roger E. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :61-76

[6] Elements of Morphology: Standard Terminology for the Ear [J].

Hunter, Alasdair ;

Frias, Jaime L. ;

Gillessen-Kaesbach, Gabriele ;

Hughes, Helen ;

Jones, Kenneth Lyons ;

Wilson, Louise .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) :40-60

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