European Journal of Pediatrics

, Volume 146, Issue 5, pp 450–452

Ocular malformations and lissencephaly

  • M. Warburg
Annotation

DOI: 10.1007/BF00441592

Cite this article as:
Warburg, M. Eur J Pediatr (1987) 146: 450. doi:10.1007/BF00441592

Abstract

Retinal dysplasia and agyria without cortical lamination are the constant findings in this autosomal recessive syndrome. There may also be anterior chamber malformations, cataract, and microphthalmos. Brain autopsies have shown a variety of associated malformations such as posterior encephalocele, Arnold-Chiari malformation, agenesis of the septum pellucidum and of the corpus callosum, agenesis of the vermis and hypoplasia of the cerebellum. Muscular dystrophy is probably present in most of these patients. Within the last few years, over 20 cases with a complete autopsy have been described. The syndrome should be differentiated from other syndromes with retinal non-attachment and retinal dysplasia, and from syndromes with hydrocephalus or encephalocele without these ocular features.

Key words

HARD±E syndrome Warburg syndrome Walker-Warburg syndrome Cerebro-ocular dysplasia muscular dystrophy COD-W syndrome 

Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • M. Warburg
    • 1
  1. 1.Eye Clinic for Patients with Multiple HandicapsGentofte HospitalGentofteDenmark

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