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McKusick-Kaufman syndrome

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Distinct dysmorphy malformation syndrome in newborn with congenital hydrometrocolpos, respiratory embarrassment; urinary, intestinal, circulatory obstruction, congenital heart defect and postaxial polydactyly. Two of three components occurring in many cases. Inheritance is autosomal recessive.

First described by McKusick in 1964 and 1968; Kaufman in 1972 did a more comprehensive description.


  • V. A. McKusick, R. L. Bauer, C. E. Koop, R. B. Scott:
    Hydrometrocolpos as a simply inherited malformation.
    Journal of the American Medical Association, Chicago, 1964, 189: 813-816.
  • V. A. McKusick, R. G. Weilbaecher, G. W. Gragg:
    Recessive inheritance of a congenital malformation syndrome.
    Journal of the American Medical Association, Chicago, 1968, 204: 113-118.
  • C. I. Dungy, et al:
    Hereditary hydrometrocolpos with polydactyly in infancy.
    Pediatrics, Evanston, Il., 1971, 47: 138-141.
  • R. L. Kaufman, A. F. Hartmann, W. H. McAllister:
    Family studies in congenital heart disease. II. A syndrome of hydrometrocopolos, postaxial polydactyly and congenital heart disease.
    Birth Defects Original Article Series, New York, 1982, VIII(5): 85-87.

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