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.