New fundus findings in a case of Kabuki syndrome

被引:11
作者
Chuah, J. L. [1 ]
Chuah, J. K. [2 ]
Brown, R. [1 ]
机构
[1] Stepping Hill Hosp, Stockport Eye Ctr, Stockport SK2 7JE, Lancs, England
[2] Monash Malaysia Med Sch, Dept Med, Selangor, Malaysia
关键词
MAKE-UP SYNDROME; MENTAL-RETARDATION; OCULAR FINDINGS; ANOMALIES; EARS;
D O I
10.1038/eye.2008.227
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:1483 / 1485
页数:5
相关论文
共 9 条
  • [1] Anandan M, 2005, Ophthalmic Genet, V26, P181, DOI 10.1080/13816810500374433
  • [2] Jaw-Winking ptosis in a patient with Kabuki syndrome
    Emmert-Buck, LT
    Preslan, MW
    Kathuria, SS
    [J]. JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2004, 41 (06) : 369 - 372
  • [3] New ocular findings in a case of Kabuki syndrome
    Evans, SL
    Kumar, N
    Rashid, MH
    Hughes, DS
    [J]. EYE, 2004, 18 (03) : 322 - 324
  • [4] KLUJIT I, 2000, OPTHALMIC GENET, V21, P51
  • [5] A NEW MALFORMATION SYNDROME OF LONG PALPEBRAL FISSURES, LARGE EARS, DEPRESSED NASAL TIP, AND SKELETAL ANOMALIES ASSOCIATED WITH POSTNATAL DWARFISM AND MENTAL-RETARDATION
    KUROKI, Y
    SUZUKI, Y
    CHYO, H
    HATA, A
    MATSUI, I
    [J]. JOURNAL OF PEDIATRICS, 1981, 99 (04) : 570 - 573
  • [6] Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association
    Ming, JE
    Russell, KL
    Bason, L
    McDonald-McGinn, DM
    Zackai, EH
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 123A (03) : 249 - 252
  • [7] NIIKAWA N, 1982, CLIN GENET, V21, P315
  • [8] KABUKI MAKE-UP SYNDROME - A SYNDROME OF MENTAL-RETARDATION, UNUSUAL FACIES, LARGE AND PROTRUDING EARS, AND POSTNATAL-GROWTH DEFICIENCY
    NIIKAWA, N
    MATSUURA, N
    FUKUSHIMA, Y
    OHSAWA, T
    KAJII, T
    [J]. JOURNAL OF PEDIATRICS, 1981, 99 (04) : 565 - 569
  • [9] Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
    Turner, C
    Lachlan, K
    Amerasinghe, N
    Hodgkins, P
    Maloney, V
    Barber, J
    Temple, IK
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2005, 13 (06) : 716 - 720