MIDLINE FACIAL DEFECTS WITH OCULAR COLOBOMATA

被引：28
|
作者：
TEMPLE, IK
BRUNNER, H
JONES, B
BURN, J
BARAITSER, M
机构：
[1] UNIV NEW MEXICO, DIV HUMAN GENET, ALBUQUERQUE, NM 87131 USA
[2] HOSP SICK CHILDREN, DEPT CLIN GENET, LONDON WC1N 3JH, ENGLAND
[3] HOSP SICK CHILDREN, DEPT PLAST SURG, LONDON WC1N 3JH, ENGLAND
[4] CATHOLIC UNIV NIJMEGEN, DEPT HUMAN GENET, NIJMEGEN, NETHERLANDS
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 01期
关键词：
frontofacionasal 'dysplasia'; frontonasal 'dysplasia'; iris colobamata;
D O I：
10.1002/ajmg.1320370107
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal 'dysplasia'. Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal 'dysplasia'. The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.
引用
收藏
页码：23 / 27
页数：5
相关论文
共 50 条
  • [1] Cerebellar involvement in midline facial defects with ocular hypertelorism
    Araujo Giffoni, Silvyo David
    Gimenes Goncalves, Vanda Maria
    Zanardi, Veronica Araujo
    Gil-da-Silva-Lopes, Vera Lucia
    CLEFT PALATE-CRANIOFACIAL JOURNAL, 2006, 43 (04): : 466 - 470
  • [2] Ocular colobomata
    Onwochei, BC
    Simon, JW
    Bateman, JB
    Couture, KC
    Mir, E
    SURVEY OF OPHTHALMOLOGY, 2000, 45 (03) : 175 - 194
  • [3] AMBLYOPIA IN INFANTS WITH OCULAR COLOBOMATA
    RODIER, DW
    FULTON, AB
    MAYER, DL
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1992, 33 (04) : 1339 - 1339
  • [4] Midline Facial Defects With Associated Brain Anomaly
    Kim, Jin Kyu
    Kim, Sun Jun
    PEDIATRIC NEUROLOGY, 2018, 79 : 76 - 77
  • [5] OCULAR COLOBOMATA IN CHAROLAIS CATTLE
    BARNETT, KC
    OGDEN, AL
    VETERINARY RECORD, 1972, 91 (24) : 592 - &
  • [6] INHERITANCE OF OCULAR COLOBOMATA IN CHAROLAIS CATTLE
    FALCO, M
    BARNETT, KC
    VETERINARY RECORD, 1978, 102 (05) : 102 - 104
  • [7] EXPANDED MIDLINE FOREHEAD FLAP FOR COVERAGE OF NONNASAL FACIAL DEFECTS
    DENNY, AD
    ANNALS OF PLASTIC SURGERY, 1992, 29 (06) : 576 - 578
  • [8] Ocular malformations, moyamoya disease, and midline cranial defects: A distinct syndrome
    Bakri, SJ
    Siker, D
    Masaryk, T
    Luciano, MG
    Traboulsi, EI
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1999, 127 (03) : 356 - 357
  • [9] AN ALTERNATIVE METHOD TO SECURE AN ENDOTRACHEAL-TUBE IN INFANTS WITH MIDLINE FACIAL DEFECTS
    JOBES, DR
    NICOLSON, SC
    ANESTHESIOLOGY, 1986, 64 (05) : 643 - 644
  • [10] Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome
    Laforest, Caroline
    Leibovitch, Igal
    Selva, Dinesh
    Crompton, John
    Haan, Eric
    CLINICAL DYSMORPHOLOGY, 2008, 17 (02) : 87 - 90
12345