Cobblestone lissencephaly with normal eyes and muscle

W. B. Dobyns, M. A. Patton, R. F. Stratton, J. M. Mastrobattista, Susan H Blanton, H. Northrup

Research output: Contribution to journalArticle

31 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)70-75
Number of pages6
JournalNeuropediatrics
Volume27
Issue number2
StatePublished - Apr 1 1996
Externally publishedYes

Fingerprint

Cobblestone Lissencephaly
Walker-Warburg Syndrome
Muscles
Eye Abnormalities
Muscular Dystrophies
Genes
Chromosomes

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Dobyns, W. B., Patton, M. A., Stratton, R. F., Mastrobattista, J. M., Blanton, S. H., & Northrup, H. (1996). Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics, 27(2), 70-75.

Cobblestone lissencephaly with normal eyes and muscle. / Dobyns, W. B.; Patton, M. A.; Stratton, R. F.; Mastrobattista, J. M.; Blanton, Susan H; Northrup, H.

In: Neuropediatrics, Vol. 27, No. 2, 01.04.1996, p. 70-75.

Research output: Contribution to journalArticle

Dobyns, WB, Patton, MA, Stratton, RF, Mastrobattista, JM, Blanton, SH & Northrup, H 1996, 'Cobblestone lissencephaly with normal eyes and muscle', Neuropediatrics, vol. 27, no. 2, pp. 70-75.
Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr 1;27(2):70-75.
Dobyns, W. B. ; Patton, M. A. ; Stratton, R. F. ; Mastrobattista, J. M. ; Blanton, Susan H ; Northrup, H. / Cobblestone lissencephaly with normal eyes and muscle. In: Neuropediatrics. 1996 ; Vol. 27, No. 2. pp. 70-75.
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