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Smith-Lemli-Opitz syndrome type II: Report of a case with additional radiographic findings

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Abstract

A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith-Lemli-Opitz syndrome. The patient's skeletal survey revealed characteristic and previously undescribed skeletal anomalies which are reported. In addition a lipoma of the pituitary gland was found on magnetic resonance imaging. This lesion is particularly interesting given the hypothesized steroid abnormality in Smith-Lemli-Opitz, type II syndrome, the sexual ambiguity of males with this syndrome and the similarity of this syndrome to the Pallister-Hall syndrome which characteristically has a hamartoblastoma of the hypothalamus.

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Authors and Affiliations

  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, 63110, St. Louis, Mo., USA

    T. E. Herman, M. J. Siegel & B. C. P. Lee

  2. Division of Genetics, Elizabeth Mallinckrodt Department of Pediatrics, Washington University School of Medicine, 63110, St. Louis, Mo., USA

    S. B. Dowton

Authors
  1. T. E. Herman
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  2. M. J. Siegel
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  3. B. C. P. Lee
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  4. S. B. Dowton
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Herman, T.E., Siegel, M.J., Lee, B.C.P. et al. Smith-Lemli-Opitz syndrome type II: Report of a case with additional radiographic findings. Pediatr Radiol 23, 37–40 (1993). https://doi.org/10.1007/BF02020219

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  • DOI: https://doi.org/10.1007/BF02020219

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