Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

被引：0
|
作者：
Sirchia, Fabio [1 ]
Fantasia, Ilaria [2 ]
Feresin, Agnese [3 ]
Giorgio, Elisa [1 ]
Barbieri, Moira [3 ]
Guida, Valentina [4 ]
De Luca, Alessandro [4 ]
Stampalija, Tamara [2 ,3 ]
机构：
[1] Univ Pavia, Pavia, Italy
[2] Burlo Garofolo Hosp, Trieste, Italy
[3] Univ Trieste, Trieste, Italy
[4] Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, San Giovanni Rotondo, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P01.020.D
引用
收藏
页码：92 / 92
页数：1
相关论文
共 50 条
  • [21] 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
  • [22] INTRA-CRANICAL CALCIFICATIONS IN CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME
    LINNA, SL
    FINNI, K
    SIMILA, S
    KOUVALAINEN, K
    LAITINEN, J
    PEDIATRIC RADIOLOGY, 1982, 12 (01) : 28 - 30
  • [23] CEREBRO-OCULO-FACIO-SKELETAL (COFS) SYNDROME - (PENA-SHOKEIR-II SYNDROME)
    HENKEL, KE
    PFEIFFER, RA
    STOSS, H
    PATHOLOGE, 1993, 14 (04): : 219 - 220
  • [24] THE NEU-COFS (CEREBRO-OCULO-FACIO-SKELETAL) SYNDROME - REPORT OF A CASE
    SILENGO, MC
    DAVI, G
    BIANCO, R
    BIAGIOLI, M
    FRANCESCHINI, P
    CAVALLO, M
    BUSSI, G
    CLINICAL GENETICS, 1984, 25 (02) : 201 - 204
  • [25] SYNDROME OF OSTEOPETROSIS AND MUSCULAR DEGENERATION ASSOCIATED WITH CEREBRO-OCULO-FACIO-SKELETAL CHANGES
    LERMANSAGIE, T
    LEVI, Y
    KIDRON, D
    GRUNEBAUM, M
    NITZAN, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 28 (01): : 137 - 142
  • [26] Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration
    Fish, JH
    Scholtz, AW
    Hussl, B
    Kreczy, A
    Schrott-Fischer, A
    OTOLOGY & NEUROTOLOGY, 2001, 22 (02) : 170 - 177
  • [27] 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
  • [28] Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
    Graham, JM
    Anyane-Yeboa, K
    Raams, A
    Appeldoorn, E
    Kleijer, WJ
    Garritsen, VH
    Busch, D
    Edersheim, TG
    Jaspers, NGJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (02) : 291 - 300
  • [29] 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
  • [30] 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
12345