Gardner-Silengo-Wachtel syndrome

Alternative eponyms

Related people

Distinct dysmorphy syndrome with male pseudohermaphroditismus, multiple malformations and poor prospects of survival.

Description

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.

Bibliography

  • 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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