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
  • [21] Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3
    Pollin, TI
    Dobyns, WB
    Crowe, CA
    Ledbetter, DH
    Bailey-Wilson, JE
    Smith, ACM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 85 (04): : 369 - 375
  • [22] Management of general anesthesia in a child with Miller–Dieker syndrome: a case report
    Chiaki Wakiguchi
    Kohei Godai
    Keika Mukaihara
    Tetsuya Ohnou
    Tamotsu Kuniyoshi
    Mina Masuda
    Yuichi Kanmura
    JA Clinical Reports, 1 (1)
  • [23] CLINICAL AND MOLECULAR-GENETIC FINDINGS IN 5 PATIENTS WITH MILLER-DIEKER-SYNDROME
    KOHLER, A
    HAIN, J
    MULLER, U
    CLINICAL GENETICS, 1995, 47 (03) : 161 - 164
  • [24] Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3
    Kim, Young Jin
    Byun, Shin Yun
    Jo, Seon A.
    Shin, Yong Beom
    Cho, Eun Hae
    Lee, Eun Yup
    Hwang, Sang-Hyun
    KOREAN JOURNAL OF LABORATORY MEDICINE, 2011, 31 (01): : 49 - 53
  • [25] Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y) (p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique
    Mishima, Takashi
    Watari, Michiko
    Iwaki, Yutaka
    Nagai, Takumi
    Kawamata-Nakamura, Miho
    Kobayashi, Yukako
    Fujieda, Satoko
    Oikawa, Mamoru
    Takahashi, Nobuhiro
    Keira, Mitsuaki
    Yoshida, Hiroshi
    Tonoki, Hidefumi
    CONGENITAL ANOMALIES, 2017, 57 (02) : 61 - 63
  • [26] Cobblestone Lissencephaly in Schinzel-Giedion Syndrome
    Lach, Boleslaw
    Arredondo, Jorge
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (02) : 259 - 263
  • [27] An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalities
    Plomp, AS
    Reardon, W
    Benton, S
    Taylor, D
    Larcher, VF
    Sundrum, R
    Winter, RM
    CLINICAL DYSMORPHOLOGY, 2000, 9 (03) : 189 - 192
  • [28] Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly
    Chen, Tai-Heng
    Chao, Mei-Chyn
    Lin, Lung-Chang
    Jong, Yuh-Jyh
    Yang, San Nan
    Lai, Yu-Hong
    Chen, Hsiu-Lin
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 278 (1-2) : 138 - 140
  • [29] Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?
    Tanteles, George A.
    Kurup, Beena
    Rauch, Anita
    Splitt, Miranda P.
    CLINICAL DYSMORPHOLOGY, 2006, 15 (02) : 107 - 110
  • [30] Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?
    Mohammad S. Ehlayel
    Tawfeg Ben-Omran
    Venkatraman Bhat
    Ahmad S. Teebi
    Journal of Neurology, 2009, 256 : 2087 - 2090
12345