Elements of Morphology: Standard Terminology for the Periorbital Region

被引:70
作者
Hall, Bryan D. [1 ]
Graham, John M., Jr. [2 ]
Cassidy, Suzanne B. [3 ]
Opitz, John M. [4 ,5 ,6 ,7 ]
机构
[1] Univ Kentucky, Kentucky Clin, Dept Pediat, Div Clin Biochem Genet & Dysmorphol, Lexington, KY 40536 USA
[2] Univ Calif Los Angeles, David Geffen Sch Med, Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90095 USA
[3] Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA 94143 USA
[4] Univ Utah, Hlth Sci Ctr, Dept Pediat, Div Med Genet, Salt Lake City, UT USA
[5] Univ Utah, Hlth Sci Ctr, Dept Pathol, Salt Lake City, UT USA
[6] Univ Utah, Hlth Sci Ctr, Dept Human Genet, Salt Lake City, UT USA
[7] Univ Utah, Hlth Sci Ctr, Dept Obstet & Gynecol, Salt Lake City, UT USA
关键词
terminology; definitions; periorbital structures; eyebrows; eyelashes; eyelids; palpebrae; telecanthus; lacrimal glands; BLEPHAROPHIMOSIS; FAMILY;
D O I
10.1002/ajmg.a.32597
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 introduce the anatomy of the periorbital area and define and illustrate the terms that describe the major characteristics of the periorbital area. (C) 2009 Wiley-Liss Inc.
引用
收藏
页码:29 / 39
页数:11
相关论文
共 32 条
  • [1] A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
    Ahmad, W
    Irvine, AD
    Lam, H
    Buckley, C
    Bingham, EA
    Panteleyev, AA
    Ahmad, M
    McGrath, JA
    Christiano, AM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (04) : 984 - 991
  • [2] Elements of Morphology: Standard Terminology for the Head and Face
    Allanson, Judith E.
    Cunniff, Christopher
    Hoyme, H. Eugene
    McGaughran, Julie
    Muenke, Max
    Neri, Giovanni
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) : 6 - 28
  • [3] Elements of Morphology: Introduction
    Allanson, Judith E.
    Biesecker, Leslie G.
    Carey, John C.
    Hennekam, Raoul C. M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) : 2 - 5
  • [4] [Anonymous], HDB NORMAL PHYS MEAS
  • [5] Elements of Morphology: Standard Terminology for the Hands and Feet
    Biesecker, Leslie G.
    Aase, Jon M.
    Clercuzio, Carol
    Gurrieri, Fiorella
    Temple, I. Karen
    Toriello, Helga
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) : 93 - 127
  • [6] Elements of Morphology: Standard Terminology for the Lips, Mouth, and Oral Region
    Carey, John C.
    Cohen, M. Michael, Jr.
    Curry, Cynthia J. R.
    Devriendt, Koenraad
    Holmes, Lewis B.
    Verloes, Alain
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (01) : 77 - 92
  • [7] Chen A, 2002, EWEEK, V19, P49
  • [8] Hypertelorism: Interorbital growth, measurements, and pathogenetic considerations
    Cohen, MM
    RichieriCosta, A
    GuionAlmeida, ML
    Saavedra, D
    [J]. INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY, 1995, 24 (06) : 387 - 395
  • [9] Cunniff C, 1998, AM J MED GENET, V75, P52, DOI 10.1002/(SICI)1096-8628(19980106)75:1<52::AID-AJMG11>3.0.CO
  • [10] 2-R