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Smith-Lemli-Opitz syndrome II (David W. Smith)

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A syndrome similar to the Smith-Lemli-Opitz syndrome I which, in addition, is characterised by pseudohermaphroditism and frequent early death.

Description

A syndrome similar to the Smith-Lemli-Opitz syndrome I which, in addition, is characterised by pseudohermaphroditism and frequent early death. Other features may include Hirschprun's syndrome, unilobated lungs, congenital heart defect, enlarged adrenals, and Langerhans cell hyperplasia.

The term Smith-Lemli-Opitz syndrome II has been used as a synonym for Gardner-Silengo-Wachtler syndrome, or genitopalatocardiac syndrome. This seems to be a misnomer. See under Lytt I. Gardner, American paediatrician and human geneticist, Syracuse.

Bibliography

  • C. J. R. Curry Jr., J. C. Carey, H. J. Holland:
    Smith-Lemli-Opitz syndrome – type II. Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
    American Journal of Medical Genetics, New York, 1987, 26: 45-57.
  • P. A. McKeever, I. D. Young:
    SmithLemliOpitz syndrome II: A disorder of fetal adrenals?
    Journal of Medical Genetics, London, 11990, 27: 465-466.

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