The Microcephaly-Capillary Malformation Syndrome

被引：21

作者：

Mirzaa, Ghayda M. ^{[1
]}

Paciorkowski, Alex R. ^{[2
]}

Smyser, Christopher D. ^{[3
]}

Willing, Marcia C. ^{[4
]}

Lind, Anne C. ^{[5
]}

Dobyns, William B. ^{[6
]}

机构：

[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[2] Univ Washington, Dept Neurol, Ctr Integrat Brain Res, Seattle Childrens Res Inst, Seattle, WA 98195 USA

[3] Washington Univ, Dept Neurol, Div Pediat & Dev Neurol, St Louis, MO USA

[4] Washington Univ, Dept Pediat Genet & Genom Med, St Louis, MO USA

[5] Washington Univ, Dept Pathol & Immunol, St Louis, MO USA

[6] Univ Washington, Dept Pediat, Div Med Genet, Ctr Integrat Brain Res,Seattle Childrens Res Inst, Seattle, WA 98195 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 09期

关键词：

microcephaly with simplified gyri; capillary malformations; infantile spasms; optic nerve hypoplasia; CUTIS MARMORATA; TUMORS; BRAIN;

D O I：

10.1002/ajmg.a.34118

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Wereport on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. (C) 2011 Wiley-Liss, Inc.

引用

页码：2080 / 2087

页数：8

共 22 条

[1] Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review) Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society [J].

Ashwal, Stephen ;

Michelson, David ;

Plawner, Lauren ;

Dobyns, William B. .

NEUROLOGY, 2009, 73 (11) :887-896

[2] Microlissencephaly: A heterogeneous malformation of cortical development [J].

Barkovich, AJ ;

Ferriero, DM ;

Barr, RM ;

Gressens, P ;

Dobyns, WB ;

Truwit, CL ;

Evrard, P .

NEUROPEDIATRICS, 1998, 29 (03) :113-119

[3] Clinical and Brain Imaging Heterogeneity of Severe Microcephaly [J].

Basel-Vanagaite, Lina ;

Dobyns, William B. .

PEDIATRIC NEUROLOGY, 2010, 43 (01) :7-16

[4]

BURNS AJ, 2009, PLAST RECONSTR SURG, V69, pE69

[5] A New Syndrome With Multiple Capillary Malformations, Intractable Seizures, and Brain and Limb Anomalies [J].

Carter, Melissa T. ;

Geraghty, Michael T. ;

De La Cruz, Laura ;

Reichard, R. Ross ;

Boccuto, Luigi ;

Schwartz, Charles E. ;

Clericuzio, Carol L. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (02) :301-306

[6] Macrocephaly with cutis marmorata, haemangioma and syndactyly - a distinctive overgrowth syndrome [J].

ClaytonSmith, J ;

Kerr, B ;

Brunner, H ;

Tranebjaerg, L ;

Magee, A ;

Hennekam, RCM ;

Mueller, RF ;

Brueton, L ;

Super, M ;

SteenJohnsen, J ;

Donnai, D .

CLINICAL DYSMORPHOLOGY, 1997, 6 (04) :291-302

[7] Vascular update: Morphogenesis, tumors, malformations, and molecular dimensions [J].

Cohen, M. Michael, Jr. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (19) :2013-2038

[8] Primary microcephaly: New approaches for an old disorder [J].

Dobyns, WB .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 112 (04) :315-317

[9] Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: Reply [J].

Dobyns, WB ;

Barkovich, AJ .

NEUROPEDIATRICS, 1999, 30 (02) :104-106

[10] PTEN: One gene, many syndromes [J].

Eng, C .

HUMAN MUTATION, 2003, 22 (03) :183-198

← 1 2 3 →