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Neuropediatrics 1996; 27(2): 70-75
DOI: 10.1055/s-2007-973752
Original Articles

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Cobblestone Lissencephaly with Normal Eyes and Muscle

W. B. Dobyns1 , M. A. Patton2 , R. F. Stratton3 , J. M. Mastrobattista4 , S. H. Blanton5 , H. Northrup6
  • 1Departments of Neurology and Pediatrics, University of Minnesota Medical School,
  • 2S. W. Thames Regional Genetics Service, St. George's Hospital Medical School, London, UK,
  • 3South Texas Genetics Center, San Antonio and Austin, TX,
  • 4Departments of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School, Houston, TX
  • 5Department of Pediatrics, University of Virginia, Charlottesville, VA, USA
  • 6Departments of Pediatrics, Division of Medical Genetics, University of Texas Medical School, Houston, TX,
Further Information

Publication History

Publication Date:
13 March 2007 (online)

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Abstract

Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presence of congenital muscular dystrophy, and criteria for MEB and WWS require retinal abnormalities. We report three patients from two consanguineous families of Middle Eastern origin with cobblestone lissencephaly but no abnormalities of the eyes or muscle.

Based on the current diagnostic criteria for the cobblestone lissencephaly syndromes, this disorder must be classified separately from the others, but it may well be allelic to MEB and WWS. Linkage studies have excluded the gene for this disorder from the region of the FCMD gene on chromosome 9q31-32.

Key words

Chromosome 9q31-32 - Cobblestone lissencephaly - Fukuyama congenital muscular dystrophy - Linkage analysis - Muscle-eye-brain disease - Walker-Warburg syndrome

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