Literature DB >> 7682675

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

J O Hourihane1, C P Bennett, R Chaudhuri, S A Robb, N D Martin.   

Abstract

We describe a sibship of three males, including monozygous twins, with cerebral and cerebellar malformations and congenital lymphedema. The parents of these children are related, being half second cousins. The clinical, radiologic and histopathologic features do not fit a previously recognized pattern. We feel this sibship represents a syndrome that has not been previously described, though it closely resembles the Walker Warburg syndrome.

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Year:  1993        PMID: 7682675     DOI: 10.1055/s-2008-1071511

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  6 in total

Review 1.  Malformations of cortical development and epilepsy.

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2.  Insights into synaptic function from mouse models of human cognitive disorders.

Authors:  Jessica L Banko; Justin Trotter; Edwin J Weeber
Journal:  Future Neurol       Date:  2011-01

3.  The swollen leg and primary lymphoedema.

Authors:  N B Wright; H M Carty
Journal:  Arch Dis Child       Date:  1994-07       Impact factor: 3.791

Review 4.  Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.

Authors:  Dan Doherty; Kathleen J Millen; A James Barkovich
Journal:  Lancet Neurol       Date:  2013-03-18       Impact factor: 44.182

5.  Reelin Prevents Apical Neurite Retraction during Terminal Translocation and Dendrite Initiation.

Authors:  Ryan S O'Dell; David A Cameron; Warren R Zipfel; Eric C Olson
Journal:  J Neurosci       Date:  2015-07-29       Impact factor: 6.167

Review 6.  Epigenetic RELN Dysfunction in Schizophrenia and Related Neuropsychiatric Disorders.

Authors:  Alessandro Guidotti; Dennis R Grayson; Hector J Caruncho
Journal:  Front Cell Neurosci       Date:  2016-04-05       Impact factor: 5.505

  6 in total

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