Cerebellar hypoplasia in two patients with Cohen syndrome: a new association

被引:0
|
作者
Chandler, Kate [1 ,2 ,3 ,4 ]
Waite, A. [5 ]
O'Driscoll, M. [1 ,2 ,3 ,4 ]
Manson, F. D. C. [5 ]
机构
[1] Univ Manchester, Reg Genet Serv, Manchester M13 9PL, Lancs, England
[2] Univ Manchester, Med Genet Res Grp, Manchester M13 9PL, Lancs, England
[3] Cent Manchester & Manchester Childrens Univ Hosp, Reg Genet Serv, Manchester, Lancs, England
[4] Cent Manchester & Manchester Childrens Univ Hosp, Med Genet Res Grp, Manchester, Lancs, England
[5] Univ Manchester, Ctr Mol Med, Manchester M13 9PL, Lancs, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S42 / S42
页数:1
相关论文
共 50 条
  • [21] New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
    Zaki, Maha S.
    Salam, Ghada M. H. Abdel
    Saleem, Sahar N.
    Dobyns, William B.
    Issa, Mahmoud Y.
    Sattar, Shifteh
    Gleeson, Joseph G.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (12) : 3035 - 3041
  • [22] Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?
    Kato, M
    Takizawa, N
    Yamada, S
    Ito, A
    Honma, T
    Hashimoto, M
    Saito, E
    Ohta, T
    Chikaoka, H
    Hayasaka, K
    ANNALS OF NEUROLOGY, 1999, 46 (04) : 660 - 663
  • [23] Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?
    Mosca, Anne-Laure
    Laurent, Nicole
    Guibaud, Laurent
    Callier, Patrick
    Thauvin-Robinet, Christel
    Mugneret, Francine
    Huet, Frederic
    Grimaldi, Marianne
    Gouyon, Jean-Bernard
    Sandre, Dominique
    Faivre, Laurence
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2007, 50 (01) : 48 - 53
  • [24] A NEW 3C SYNDROME - CEREBELLAR HYPOPLASIA, CAVERNOUS HEMANGIOMA AND COARCTATION OF THE AORTA
    GOH, WHS
    LO, R
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1993, 35 (07): : 637 - 641
  • [25] Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome
    Ozdem Erturk
    Ugur Uygunoglu
    Tiraje Celkan
    Cengiz Yalcinkaya
    Child's Nervous System, 2016, 32 : 587 - 588
  • [26] Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome
    Silengo, M
    Ferrero, GB
    Tornetta, L
    Cortese, MG
    Canavese, F
    D'Alonzo, G
    Papalia, F
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 118A (04): : 388 - 390
  • [27] Prenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome
    Erturk, Ozdem
    Uygunoglu, Ugur
    Celkan, Tiraje
    Yalcinkaya, Cengiz
    CHILDS NERVOUS SYSTEM, 2016, 32 (04) : 587 - 588
  • [28] KERATITIS, ICHTHYOSIS, AND DEAFNESS (KID) SYNDROME WITH CEREBELLAR HYPOPLASIA
    HSU, HC
    LIN, GS
    LI, WM
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 1988, 27 (10) : 695 - 697
  • [29] Torsional nystagmus in pediatric patients with cerebellar hypoplasia
    Phillips, James
    Weiss, Avery H.
    Brodsky, Michael
    Kelly, John P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [30] Lissencephaly, cerebellar hypoplasia, and extrahepatic biliary atresia: an unusual association
    Velilla, I. del Castillo
    Jimenez, M. D. Martinez
    Martin, M. Pascual
    Cabezas, M. A. Garcia
    NEUROLOGIA, 2020, 35 (07): : 502 - 503