Band-Like Intracranial Calcification (BIC), Microcephaly and Malformation of Brain Development: A Distinctive Form of Congenital Infection Like Syndromes

被引:11
作者
Abdel-Salam, Ghada M. H. [1 ]
Zaki, Maha S. [1 ]
机构
[1] Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo, Egypt
关键词
PSEUDO-TORCH; POLYMICROGYRIA; PHENOTYPE;
D O I
10.1002/ajmg.a.32894
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1565 / 1568
页数:4
相关论文
共 9 条
[1]   Microcephaly, Malformation of Brain Development and Intracranial Calcification in Sibs: Pseudo-TORCH or a New Syndrome [J].
Abdel-Salam, Ghada M. H. ;
Zaki, Maha S. ;
Saleem, Sahar N. ;
Gaber, Khaled R. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (22) :2929-2936
[2]  
Aicardi J., 1998, DIS NERVOUS SYSTEM C
[3]  
Barkovich AJ, 1999, AM J NEURORADIOL, V20, P1814
[4]   Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [J].
Briggs, T. A. ;
Abdel-Salam, G. M. H. ;
Balicki, M. ;
Baxter, P. ;
Bertini, E. ;
Bishop, N. ;
Browne, B. H. ;
Chitayat, D. ;
Chong, W. K. ;
Eid, M. M. ;
Halliday, W. ;
Hughes, I. ;
Klusmann-Koy, A. ;
Kurian, M. ;
Nischal, K. K. ;
Rice, G. L. ;
Stephenson, J. B. P. ;
Surtees, R. ;
Talbot, J. F. ;
Tehrani, N. N. ;
Tolmie, J. L. ;
Toomes, C. ;
van der Knaap, M. S. ;
Crow, Y. J. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (02) :182-190
[5]   Band-Like Intracranial Calcification With Simplified Gyration and Polymicrogyria: A Distinct "Pseudo-TORCH" Phenotype [J].
Briggs, T. A. ;
Wolf, N. I. ;
D'Arrigo, S. ;
Ebinger, F. ;
Harting, I. ;
Dobyns, W. B. ;
Livingston, J. H. ;
Rice, G. I. ;
Crooks, D. ;
Rowland-Hill, C. A. ;
Squier, W. ;
Stoodley, N. ;
Pilz, D. T. ;
Crow, Y. J. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (24) :3173-3180
[6]  
Çaksen H, 2004, GENET COUNSEL, V15, P9
[7]   Bilateral generalized polymicrogyria (BGP) - A distinct syndrome of cortical malformation [J].
Chang, BS ;
Piao, X ;
Giannini, C ;
Cascino, GD ;
Scheffer, I ;
Woods, CG ;
Topcu, M ;
Tezcan, K ;
Bodell, A ;
Leventer, RJ ;
Barkovich, AJ ;
Grant, PE ;
Walsh, CA .
NEUROLOGY, 2004, 62 (10) :1722-1728
[8]   Microcephaly with plate-like cortical calcification [J].
Kalyanasundaram, S ;
Dutta, S ;
Narang, A ;
Katariya, S .
BRAIN & DEVELOPMENT, 2003, 25 (02) :130-132
[9]   Clinical and molecular phenotype of Aicardi-Goutieres syndrome [J].
Rice, Gillian ;
Patrick, Teresa ;
Parmar, Rekha ;
Taylor, Claire F. ;
Aeby, Alec ;
Aicardi, Jean ;
Artuch, Rafael ;
Montalto, Simon Attard ;
Bacino, Carlos A. ;
Barroso, Bruno ;
Baxter, Peter ;
Benko, Willam S. ;
Bergmann, Carsten ;
Bertini, Enrico ;
Biancheri, Roberta ;
Blair, Edward M. ;
Blau, Nenad ;
Bonthron, David T. ;
Briggs, Tracy ;
Brueton, Louise A. ;
Brunner, Han G. ;
Burke, Christopher J. ;
Carr, Ian M. ;
Carvalho, Daniel R. ;
Chandler, Kate E. ;
Christen, Hans-Juergen ;
Corry, Peter C. ;
Cowan, Frances M. ;
Cox, Helen ;
D'Arrigo, Stefano ;
Dean, John ;
De laet, Corinne ;
De Praeter, Claudine ;
Dery, Catherine ;
Ferrie, Colin D. ;
Flintoff, Kim ;
Frints, Suzanna G. M. ;
Garcia-Cazorla, Angels ;
Gener, Blanca ;
Goizet, Cyril ;
Goutieres, Francoise ;
Green, Andrew J. ;
Gueet, Agnes ;
Hamel, Ben C. J. ;
Hayward, Bruce E. ;
Heiberg, Arvid ;
Hennekam, Raoul C. ;
Husson, Marie ;
Jackson, Andrew P. ;
Jayatunga, Rasieka .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (04) :713-725