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Gardner-Silengo-Wachtel syndrome

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Distinct dysmorphy syndrome with male pseudohermaphroditismus, multiple malformations and poor prospects of survival. Malformations include micrognathia, cleft palate, and heart defect. Low-set ears, double-outlet right ventricle, ventricular septal defect, gonadal dysgenesis, cleft lip, transposition of the great vessels, right-sided aortic arch, polycystic kidneys, and hypospadias. Inheritance is autosomal recessive or X-linked recessive. Oral contraceptives are suspected as a probable causative agent.

Smith-Lemli-Opitz syndrome III is entered as a separate entity under David W. Smith, American paediatrician and dysmorphologist, 1926-1981.


  • L. I. Gardner, S. R. Assemany, R. L. Neu:
    46.XY female: Antiandrogenic effect or oral contraceptive?
    Lancet, London, 1970, II: 667-668.
  • M. Silengo, R. L. Kaufman, J. Kisane:
    A 46.XY infant with uterus, dysgenetic gonads, and multiple anomalies. Humangenetik, Berlin, 1974, 25: 65-68.
  • S. S. Wachtel:
    H-Y antigen and the biology of sex determination.
    Grune and Stratton, New York, 1983, pp 224-225.

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