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Wolf-Hirschhorn syndrome (Ulrich Wolf)

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A congenital syndrome of mental and physical retardation. Multiple abnormalities include microcephaly, characteristic facies with micrognathy, and often cardiac malformations. A low birth weight, hypotonia, and seizures are usually present at birth. Caused by deletion of the short arm of chromosome 4. Life expectancy is low, about one third of all affected infants dying within the first two years of life.


  • K. Hirschhorn, H. L. Cooper:
    Apparent deletion of short arms of one chromosome (4 or 5) in child with defects of midline fusion.
    Human Chromosome Newsletter, 1961, 4: 14.

  • J. B. Sidbury, R. D. Schmickel, M. Gray:
    Findings in a patient with apparent deletion of short arms on one of the B group chromosomes. Journal of Pediatrics, St. Louis, 1964; 65: 1098.

  • U. Wolf, , R. Porsch, H. Baitsch, H. Reinwein:
    Deletion on short arms of a B-chromosome without "cri du chat" syndrome.
    The Lancet, April 3, 1965, I: 769.
  • U. Wolf, H. Reinwein, R. Porsch, R. Schröter, H. Baitsch:
    Defiziens an den kurzen Armen eines Chromosoms Nr. 4.
    Humangenetik, Berlin, 1965, 1: 397-413.
  • K. Hirschhorn, H. L. Cooper, I. L. Firschein:
    Deletion of short arms of chromosome 4-5 in a child defects of midline fusion.
    Humangenetik, Berlin, 1965, 1: 479-482.
  • K. Hirschhorn:
    A short history of the initial discovery of the Wolf-Hirschhorn syndrome.
    American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, November 15, 2008, 148C (4): 244-245.

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