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
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
  • [31] 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
  • [32] Vanishing white matter and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype
    Boltshauser, E
    Barth, PG
    Troost, D
    Martin, E
    Stallmach, T
    NEUROPEDIATRICS, 2002, 33 (02) : 57 - 62
  • [33] Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome
    Ali, Abir Ben Haj
    Amouri, Ahlem
    Sayeb, Marwa
    Makni, Saloua
    Hammami, Wajih
    Naouali, Chokri
    Dallali, Hamza
    Romdhane, Lilia
    Bashamboo, Anu
    McElreavey, Kenneth
    Abdelhak, Sonia
    Messaoud, Olfa
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (07):
  • [34] Cerebro-oculo-facio-skeletal syndrome:: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
    Laugel, V.
    Dalloz, C.
    Tobias, E. S.
    Tolmie, J. L.
    Martin-Coignard, D.
    Drouin-Garraud, V.
    Valayannopoulos, V.
    Sarasin, A.
    Dollfus, H.
    JOURNAL OF MEDICAL GENETICS, 2008, 45 (09) : 564 - 571
  • [35] Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
    Meira, LB
    Graham, JM
    Greenberg, CR
    Busch, DB
    Doughty, ATB
    Ziffer, DW
    Coleman, DM
    Savre-Train, I
    Friedberg, EC
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (04) : 1221 - 1228
  • [36] Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2
    Reunert, Janine
    van den Heuvel, Alijda
    Rust, Stephan
    Marquardt, Thorsten
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (03) : 930 - 936
  • [37] Discovery of a Novel Mutation in the Excision Repair Cross-Complementing 1 Gene in a Teenage Patient with Cerebro-Oculo-Facio-Skeletal Syndrome
    Nyenhuis, Rachel A.
    Gibson, Jane
    PEDIATRICS, 2021, 147 (03)
  • [38] Endoscopic laser posterior cordectomy in a newborn with bilateral vocal fold paralysis and cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
    Joerg Kutschera
    Gerhard Friedrich
    Berndt Urlesberger
    Ernst Eber
    Wilhelm Mueller
    European Journal of Pediatrics, 2004, 163 : 120 - 121
  • [39] Endoscopic laser posterior cordectomy in a newborn with bilateral vocal fold paralysis and cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
    Kutschera, J
    Friedrich, G
    Urlesberger, B
    Eber, E
    Mueller, W
    EUROPEAN JOURNAL OF PEDIATRICS, 2004, 163 (02) : 120 - 121
  • [40] First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure
    Jaspers, Nicolaas G. J.
    Raams, Anja
    Silengo, Margherita Cirillo
    Wijgers, Nils
    Niedernhofer, Laura J.
    Robinson, Andria Rasile
    Giglia-Mari, Giuseppina
    Hoogstraten, Deborah
    Kleijer, Wim J.
    Hoeijmakers, Jan H. J.
    Vermeulen, Wim
    AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (03) : 457 - 466