Spina bifida myelomeningocele (SBM) is a specific type of neural tube defect whereby the open neural tube at the level of the spinal cord alters brain development during early stages of gestation. Some structural anomalies are virtually unique to individuals with SBM, including a complex pattern of cerebellar dysplasia known as the Chiari II malformation. Other structural anomalies are not necessarily unique to SBM, including altered development of the corpus callosum and posterior fossa. Within SBM, tremendous heterogeneity is reflected in the degree to which brain structures are atypical in qualitative appearance and quantitative measures of morphometry. Hallmark structural features of SBM include overall reductions in posterior fossa and cerebellum size and volume. Studies of the corpus callosum have shown complex patterns of agenesis or hypoplasia along its rostral-caudal axis, with rostrum and splenium regions particularly susceptible to agenesis. Studies of cortical regions have demonstrated complex patterns of thickening, thinning, and gyrification. Diffusion tensor imaging studies have reported compromised integrity of some specific white matter pathways. Given equally complex ocular motor, motor, and cognitive phenotypes consisting of relative strengths and weaknesses that seem to align with altered structural development, studies of SBM provide new insights to our current understanding of brain structure-function associations. (C) 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:23-30.
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
Aldinger, Kimberly A.
;
Elsen, Gina E.
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Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USAUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
Elsen, Gina E.
;
Prince, Victoria E.
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Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Univ Chicago, Dept Organismal Biol & Anat, Chicago, IL 60637 USAUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
机构:
Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Aldinger, Kimberly A.
;
Lehmann, Ordan J.
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Univ Alberta, Dept Ophthalmol, Edmonton, AB, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB, CanadaUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Lehmann, Ordan J.
;
Hudgins, Louanne
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Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Hudgins, Louanne
;
Chizhikov, Victor V.
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Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Chizhikov, Victor V.
;
Bassuk, Alexander G.
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Univ Iowa, Dept Pediat, Div Neurol & Interdisciplinary, Grad Program Genet, Iowa City, IA 52242 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Bassuk, Alexander G.
;
Ades, Lesley C.
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Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, AustraliaUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Ades, Lesley C.
;
Krantz, Ian D.
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Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Krantz, Ian D.
;
Dobyns, William B.
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Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
Univ Chicago, Dept Neurol, Chicago, IL 60637 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
机构:
Northwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USANorthwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USA
Bowman, Robin M.
;
McLone, David G.
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Northwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USANorthwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USA
机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
Aldinger, Kimberly A.
;
Elsen, Gina E.
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Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USAUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
Elsen, Gina E.
;
Prince, Victoria E.
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机构:
Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Univ Chicago, Dept Organismal Biol & Anat, Chicago, IL 60637 USAUniv Chicago, Dept Human Genet, Chicago, IL 60637 USA
机构:
Univ Chicago, Comm Neurobiol, Chicago, IL 60637 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Aldinger, Kimberly A.
;
Lehmann, Ordan J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Ophthalmol, Edmonton, AB, Canada
Univ Alberta, Dept Med Genet, Edmonton, AB, CanadaUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Lehmann, Ordan J.
;
Hudgins, Louanne
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机构:
Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Hudgins, Louanne
;
Chizhikov, Victor V.
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Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Chizhikov, Victor V.
;
Bassuk, Alexander G.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Iowa, Dept Pediat, Div Neurol & Interdisciplinary, Grad Program Genet, Iowa City, IA 52242 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Bassuk, Alexander G.
;
Ades, Lesley C.
论文数: 0引用数: 0
h-index: 0
机构:
Childrens Hosp Westmead, Dept Clin Genet, Sydney, NSW, Australia
Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, AustraliaUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Ades, Lesley C.
;
Krantz, Ian D.
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h-index: 0
机构:
Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
Krantz, Ian D.
;
Dobyns, William B.
论文数: 0引用数: 0
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机构:
Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
Univ Chicago, Dept Neurol, Chicago, IL 60637 USAUniv Chicago, Comm Neurobiol, Chicago, IL 60637 USA
机构:
Northwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USANorthwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USA
Bowman, Robin M.
;
McLone, David G.
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Northwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USANorthwestern Univ, Feinberg Sch Med, Childrens Mem Hosp, Chicago, IL 60614 USA