lissencephaly


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lissencephaly

 [lis″en-sef´ah-le]
agyria. adj., adj lissencephal´ic.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

a·gy·ri·a

(ā-jī'rē-ă),
Congenital lack or underdevelopment of the convolutional pattern of the cerebral cortex.
[G. a- priv. + gyros, circle]
Farlex Partner Medical Dictionary © Farlex 2012

lissencephaly

Neurology A brain malformation that is isolated or associated with other syndromes–eg, Miller-Dieker syndrome, Norman-Roberts syndrome, characterized by absence–agyria or incomplete development–pachygyria of cerebral gyri Clinical Microcephaly, seizures, profound mental retardation, feeding difficulties, growth retardation, impaired motor activity
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Miller,

James Q., U.S. physician.
Miller-Dieker syndrome - arrested brain development. Synonym(s): lissencephaly; Norman-Roberts syndrome
Medical Eponyms © Farlex 2012
References in periodicals archive ?
The team took skin cells from patients with lissencephaly and turned them into iPS cells they then cultivated under special conditions into neuronal stem cells and neurons that are copies of those in the patients' brains.
Failure of the glycosylation process leads to characteristic MRI findings which include type II ("cobblestone") lissencephaly and myelination failure.
Yamamoto, "CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly," Genomics, vol.
In addition to humans, lissencephaly has been reported in dogs including Lhasa Apsos (LEE et al., 2011), wire fox terriers, Irish setters, samoyeds, in undefined breeds, a Korat cat (DE LAHUNTA & GLASS 2009), goats (SANTOS et al., 2013) and sheep (PEREZ et al., 2013).
Lissencephaly and facial dysmorphism: is it Miller-Dieker syndrome?
(12); more severe anomalies (e.g., lissencephaly) occur in infants whose mothers were infected before weeks 16-18 of pregnancy (13).
He was defying all the odds stacked against him after being diagnosed with a rare genetic disorder called Lissencephaly with Miller-Dieker syndrome just three months after birth.
MDS is characterised by a developmental defect of the brain (type 1 lissencephaly), which is caused by incomplete neuronal migration.
Jaxon was born on August 27, 2014 and received an official diagnosis of Lissencephaly, in which the brain doesn't have the folds that it should.
Millie Williams, 10, cannot speak or walk because of the life-limiting and incurable brain condition, lissencephaly.
As a typical example, ARX phenotypes can be responsible either in the West syndrome or in lissencephaly In contrast, we do not have any particular causative gene or genes in well known, classic electroclinical syndromes such as JAE or JME.
Anna was born with lissencephaly and she has endured many challenges during her lifetime.