CEREBRO-OCULO-FACIO-SKELETAL SYNDROME

被引：13
|
作者：
GRIZZARD, WS
ODONNELL, JJ
CAREY, JC
机构：
[1] UNIV CALIF SAN FRANCISCO, DEPT OPHTHALMOL, SAN FRANCISCO, CA 94143 USA
[2] UNIV CALIF SAN FRANCISCO, DEPT PEDIAT, DIV GENET, SAN FRANCISCO, CA 94143 USA
来源：
AMERICAN JOURNAL OF OPHTHALMOLOGY | 1980年 / 89卷 / 02期
关键词：
D O I：
10.1016/0002-9394(80)90127-0
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：293 / 298
页数：6
相关论文
共 50 条
  • [21] Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
    Sakai, T
    Kikuchi, F
    Takashima, S
    Matsuda, H
    Watanabe, N
    BRAIN & DEVELOPMENT, 1997, 19 (01): : 58 - 62
  • [22] CafE au lait macules and Cerebro-Oculo-Facio-Skeletal Syndrome: A Novel Association
    Twede, James Vernal
    Difazio, Mark
    PEDIATRIC DERMATOLOGY, 2009, 26 (01) : 97 - 99
  • [23] DECREASED NUMBER OF ANTERIOR HORN CELLS IN THE CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME
    WILLIAMS, RS
    HOLMES, LB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1978, 30 (06) : A106 - A106
  • [24] Cerebro-oculo-facio-skeletal syndrome:: report of two cases from Turkey with postmortem findings
    Semerci, CN
    Onat, N
    Günçe, S
    Demirel, N
    Becer, M
    Yilmazer, Y
    Öznur, I
    Turkyilmaz, C
    Balci, S
    TURKISH JOURNAL OF PEDIATRICS, 2002, 44 (03) : 269 - 273
  • [25] Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature
    Le Van Quyen, Pauline
    Calmels, Nadege
    Bonniere, Maryse
    Chartier, Suzanne
    Razavi, Ferechte
    Chelly, Jamel
    El Chehadeh, Salima
    Baer, Sarah
    Boutaud, Lucile
    Bacrot, Severine
    Obringer, Cathy
    Favre, Romain
    Attie-Bitach, Tania
    Laugel, Vincent
    Antal, Maria C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (05) : 1236 - 1242
  • [26] Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome
    Yuksek, Ahmet
    Ela, Yuksel
    Baki, Elif Dogan
    Kokulu, Serdar
    REVISTA BRASILEIRA DE ANESTESIOLOGIA, 2017, 67 (06): : 663 - 664
  • [27] Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
    Fabio Sirchia
    Ilaria Fantasia
    Agnese Feresin
    Elisa Giorgio
    Flavio Faletra
    Denise Mordeglia
    Moira Barbieri
    Valentina Guida
    Alessandro De Luca
    Tamara Stampalija
    BMC Medical Genomics, 14
  • [28] Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
    Sirchia, Fabio
    Fantasia, Ilaria
    Feresin, Agnese
    Giorgio, Elisa
    Barbieri, Moira
    Guida, Valentina
    De Luca, Alessandro
    Stampalija, Tamara
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 92 - 92
  • [29] Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
    Sirchia, Fabio
    Fantasia, Ilaria
    Feresin, Agnese
    Giorgio, Elisa
    Faletra, Flavio
    Mordeglia, Denise
    Barbieri, Moira
    Guida, Valentina
    De Luca, Alessandro
    Stampalija, Tamara
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [30] A VARIANT OF THE CEREBRO-OCULO-FACIO-SKELETAL SYNDROME WITH CONGENITAL ECTROPION AND A CASE OF LAMELLAR ICHTHYOSIS IN THE SAME FAMILY
    STRATAKIS, CA
    RUNKLE, B
    RENNERT, OM
    CLINICAL GENETICS, 1994, 45 (03) : 162 - 163
12345