Elements of Morphology: General Terms for Congenital Anomalies

被引：102

作者：

Hennekam, Raoul C. ^{[1
,2
]}

Biesecker, Leslie G. ^{[3
]}

Allanson, Judith E. ^{[4
]}

Hall, Judith G. ^{[5
,6
,7
]}

Opitz, John M. ^{[8
]}

Temple, I. Karen ^{[9
,10
]}

Carey, John C. ^{[8
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

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

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

[5] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

[6] Univ British Columbia, Dept Pediat, Vancouver, BC V6T 1W5, Canada

[7] BC Childrens Hosp, Vancouver, BC, Canada

[8] Univ Utah, Div Med Genet Human Genet Pathol Obstet & Gynecol, Salt Lake City, UT USA

[9] Univ Southampton, Fac Med, Southampton SO9 5NH, Hants, England

[10] Southampton Univ Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 11期

关键词：

nomenclature; definitions; genotype; phenotype; anomaly; variant; malformation; deformation; dysplasia; disruption; syndrome; sequence; association; morphology; dysmorphology; FETAL HEAD CONSTRAINT; STANDARD TERMINOLOGY; MALFORMATION SYNDROMES; FACIAL DIFFERENCES; CHARGE-SYNDROME; OLIGOHYDRAMNIOS; RECOMMENDATIONS; CLASSIFICATION; CRANIOSTENOSIS; NOMENCLATURE;

D O I：

10.1002/ajmg.a.36249

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 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. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2726 / 2733

页数：8

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