�ber eine nahezu totale Agyrie bei einem 6 Jahre alt gewordenen Knaben

Münchhoff, Ch.; Noetzel, H

doi:10.1007/bf00688508

Cited by 16 publications

(2 citation statements)

References 6 publications

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“…Norman et al (1976) reported on two patients with lissencephaly and short, sloping forehead, an atypical phenotype for Miller±Dieker syndrome, a more common lissencephaly syndrome. Although a previous observation may have been that of Mu È nchoff and Noetzel (1965), who reported on a retarded patient with microcephaly, sloping forehead, and micrognathia, only one additional report is present in the literature (Iannetti, 1992).…”

Section: Introductionmentioning

confidence: 99%

Norman–Roberts syndrome: prenatal diagnosis and autopsy findings

Sergi

Zoubaa²,

Schiesser

2000

Prenat. Diagn.

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Section: Introductionmentioning

confidence: 99%

Norman–Roberts syndrome: prenatal diagnosis and autopsy findings

Sergi

Zoubaa²,

Schiesser

2000

Prenat. Diagn.

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“…The remaining subependymal cell layer is also poorly demarcated from the deep white matter and sometimes contains periventricular heterotopias. In children of over 1 year of age, additional sublayers consisting of sheets of myelinated fibers with a radial arrangement and crossing the deeper layers may be recognized, in particular, in layers II and III [ 30 , 52 , 55 , 70 , 107 , 122 , 124 ]. The internal capsule is histologically observed, hypoplastic and irregular in shape.…”

Section: Neuropathology Of Type I Lissencephalymentioning

confidence: 99%

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

et al. 2010

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Type I lissencephaly or agyria-pachygyria is a rare developmental disorder which results from a defect of neuronal migration. It is characterized by the absence of gyri and a thickening of the cerebral cortex and can be associated with other brain and visceral anomalies. Since the discovery of the first genetic cause (deletion of chromosome 17p13.3), six additional genes have been found to be responsible for agyria–pachygyria. In this review, we summarize the current knowledge concerning these genetic disorders including clinical, neuropathological and molecular results. Genetic alterations of LIS1, DCX, ARX, TUBA1A, VLDLR, RELN and more recently WDR62 genes cause migrational abnormalities along with more complex and subtle anomalies affecting cell proliferation and differentiation, i.e., neurite outgrowth, axonal pathfinding, axonal transport, connectivity and even myelination. The number and heterogeneity of clinical, neuropathological and radiological defects suggest that type I lissencephaly now includes several forms of cerebral malformations. In vitro experiments and mutant animal studies, along with neuropathological abnormalities in humans are of invaluable interest for the understanding of pathophysiological mechanisms, highlighting the central role of cytoskeletal dynamics required for a proper achievement of cell proliferation, neuronal migration and differentiation.

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Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly

1984

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Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.

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�ber eine nahezu totale Agyrie bei einem 6 Jahre alt gewordenen Knaben

Cited by 16 publications

References 6 publications

Norman–Roberts syndrome: prenatal diagnosis and autopsy findings

Norman–Roberts syndrome: prenatal diagnosis and autopsy findings

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly

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