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Walker-Warburg syndrome

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A lethal disorder of the brain marked by hydrocephalus, cerebral agyria, retinal dysplasia and other eye abnormalities, and occasional occipital encephalocele. Small penis, cryptorchism, hydronephrosis, pelviureteric junction obstruction, anoperineal fistula, and talipes are often associated. Most affected patients die within 1 year. Inheritance is autosomal recessive.

See also Krause-Reese syndrome, or congenital encephalo-ophthalmic dysplasia, under Arlington Colton Krause, American ophthalmologist, born 1896.


  • A. E. Walker:
    Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29.
  • A. C. Krause:
    Congenital encephalo-ophthalmic dysplasia.
    Archives of Ophthalmology, Chicago, 1946, 36: 387-414.
  • A. B. Reese, B. R. Straatsma:
    Retinal dysplasia. American Journal of Ophthalmology, Chicago, 1958, 45(4, part 2): 199-211.
  • M. Warburg:
    The heterogeneity of microphthalmia in the mentally retarded.
    Birth Defects Original Article Series, New York, 1971, 7 (3): 136-154. Hydrocephaly, congenital retinal non-attachment and congenital falciform fold.
    American Journal of Ophthalmology, Chicago, 1978, 85: 88-94. Ocular malformations and lissencephaly.
    European Journal of Pediatrics, Berlin, 1987, 146: 450-452.
  • J. Chemke, B. Czernobilsky, G. Mundel, Y. R. Barishak:
    A familial syndrome of central nervous system and ocular malformations. Clinical Genetics, Copenhagen, 1975, 1-7.
  • R. A. Pagon, J. W. Chandler, W. R. Collie, S. K. Clarren, J. Moon, S. A. Minkin, J. G. Hall:
    Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD ± E) syndrome: an autosomal recessive disorder.
    Birth Defects Original Article Series, New York, 1978, 14 (6B): 233-241.
  • R. A. Pagon, S. K. Clarren:
    HARD ± E: Warburg's syndrome (letter to the editor).
    Archives of Neurology, Chicago, 1981, 38: 66.
  • W. B. Dobyns, J. B. Kirkpatrick, H. M. Hittner, R. M. Roberts, F. L. Kretzer:
    Syndromes with lissencephaly II: Walker-Warburg and cerebro-oculo-muscular syndromes and anew syndrome with type II lissencephaly.
    American Journal of Medical Genetics, New York, 1985, 22: 157-195.
  • W. B. Dobyns, R. A. Pagon, D. Armstron, C. J. R. Curry, F. Greenberg, A. Grix, L. B. Holmes, R. Laxova, V. V. Michels, M. Robinow, R. L. Zimmerman:
    Diagnostic criteria for Walker-Warburg syndrome.
    American Journal of Medical Genetics, New York, 1989, 32: 195-210.

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