منابع مشابه
Computed tomographic appearance of lissencephaly syndromes.
Lissencephaly is a rare malformation of the human brain manifest by a smooth cerebral surface. It is usually associated with other brain anomalies. The computed tomographic appearance in nine patients with lissencephaly, representing several separate types and syndromes, is reported. Common manifestations include a smooth cerebral surface and absent opercula that may lend a figure-eight appeara...
متن کاملClassical lissencephaly syndromes: does the face reflect the brain?
Both Miller-Dieker syndrome and isolated lissencephaly sequence are associated with classical lissencephaly. Both have been shown to be associated with deletions and mutations in LIS1 on 17p. Traditionally, the two disorders have been distinguished by the presence of a characteristic facial appearance in Miller-Dieker syndrome. The forehead is tall and prominent and may have vertical furrowing....
متن کاملAn infant with isolated Lissencephaly.
Lissencephaly or agyria is a prototype of disorders of neuronal migration, a rare type of hereditary malformation of the brain, which manifests with smooth cerebral surface, poorly defined sylvian fissures with thickened cerebral cortical mantle. A case of an infant with isolated variety is presented highlighting some of the major associated clinical features, which include profound intellectua...
متن کاملLissencephaly - A Brain Flawed
We present a case report of a twelve-day old child suffering from seizures, in which magnetic resonance imaging (MRI) established the diagnosis of Lissencephaly. Although the causes of this disease entity are manifold, MRI can reveal stigmata of antenatal maternal infections in the child. In such a scenario, cytomegalovirus (CMV) is an important offender. In this article we discuss the pathogen...
متن کاملINDIAN PEDIATRICS Lissencephaly
Lissencephaly means smooth brain, i.e., brain without convolutions or gyri. Miller in (1963) and later Dieker in 1969 described a specific pattern of malfor mations, one feature of which was lissencephaly(l,2). They emphasized that this should be called lissencephaly syndrome because of the association of polydactyly, unusual facial appearanc es, malformation of the heart, kidneys and other org...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1996
ISSN: 1468-6244
DOI: 10.1136/jmg.33.4.319