Lissencephaly and facial dysmorphism: is it Miller-Dieker syndrome?

被引：1
作者：
Saini, Arushi Gahlot [1 ]
Singhi, Pratibha [1 ]
Sahu, Jitendra Kumar [2 ]
Vyas, Sameer [3 ]
机构：
[1] Postgrad Inst Med Educ & Res, Dept Pediat, Unit Pediat Neurol & Neurodev, Chandigarh, India
[2] Postgrad Inst Med Educ & Res, Dept Pediat, Chandigarh, India
[3] Postgrad Inst Med Educ & Res, Dept Radiodiag, Chandigarh, India
来源：
NEUROLOGY AND CLINICAL NEUROSCIENCE | 2013年 / 1卷 / 05期
关键词：
infantile spasms; lissencephaly; malformation; MillerDieker;
D O I：
10.1111/ncn3.54
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：187 / 188
页数：2
相关论文
共 48 条
  • [31] Total callosotomy for a case of lissencephaly presenting with West syndrome and generalized seizures
    T. Kamida
    T. Maruyama
    M. Fujiki
    H. Kobayashi
    T. Izumi
    H. Baba
    Child's Nervous System, 2005, 21 : 1056 - 1060
  • [32] Total callosotomy for a case of lissencephaly presenting with West syndrome and generalized seizures
    Kamida, T
    Maruyama, T
    Fujiki, M
    Kobayashi, H
    Izumi, T
    Baba, H
    CHILDS NERVOUS SYSTEM, 2005, 21 (12) : 1056 - 1060
  • [33] Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome?
    Farah, S
    Sabry, MA
    Khuraibet, A
    Khaffagi, S
    Rudwan, M
    Hassan, M
    Haseeb, N
    Abulhassan, S
    AbdelRasool, MA
    Elgamal, S
    Qasrawi, B
    AlBusairi, W
    Farag, TI
    CLINICAL GENETICS, 1997, 51 (05) : 326 - 330
  • [34] New syndrome?: Lissencephaly type III, stippled epiphyses and loose, thick skin:: A new recessively inherited syndrome
    Attia-Sobol, J
    Encha-Razavi, F
    Hermier, M
    Vitrey, D
    Verloes, A
    Plauchu, H
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 99 (01): : 14 - 20
  • [35] Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate
    Jagla, Mateusz
    Yruczek, Piotr
    Kwinta, Przemko
    JOURNAL OF CLINICAL ULTRASOUND, 2008, 36 (06) : 387 - 390
  • [36] Isolated lissencephaly sequence and double-cortex syndrome in a German family with a novel doublecortin mutation
    Aigner, L
    Fluegel, D
    Dietrich, J
    Ploetz, S
    Winkler, J
    NEUROPEDIATRICS, 2000, 31 (04) : 195 - 198
  • [37] Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: Type III lissencephaly syndrome
    Razavi, FE
    Larroche, JC
    Roume, J
    Gonzales, M
    Kondo, HC
    Mulliez, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 62 (01): : 16 - 22
  • [38] Cerebro-oculo-facial-lymphatic syndrome
    Milunsky, JM
    Capin, DM
    CLINICAL GENETICS, 2003, 63 (04) : 291 - 296
  • [39] Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome
    Keidar, Liraz
    Gerlitz, Gabi
    Kshirsagar, Aditya
    Tsoory, Michael
    Olender, Tsviya
    Wang, Xing
    Yang, Ying
    Chen, Yu-Sheng
    Yang, Yun-Gui
    Voineagu, Irina
    Reiner, Orly
    FRONTIERS IN CELLULAR NEUROSCIENCE, 2019, 13
  • [40] Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-associated syndrome and a brief review of literature
    Lo, Hui-Yin
    Ng, Wai-Fu
    Fong, Nai-Chung
    Lui, Choi-Yu Dilys
    Lam, Ching-Wan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (07) : 2168 - 2172
12345