Pediatric Radiology

, Volume 23, Issue 1, pp 37–40 | Cite as

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

  • T. E. Herman
  • M. J. Siegel
  • B. C. P. Lee
  • S. B. Dowton


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.


Public Health Magnetic Resonance Imaging Steroid Pituitary Gland Lipoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • T. E. Herman
    • 1
  • M. J. Siegel
    • 1
  • B. C. P. Lee
    • 1
  • S. B. Dowton
    • 2
  1. 1.Mallinckrodt Institute of RadiologyWashington University School of MedicineSt. LouisUSA
  2. 2.Division of Genetics, Elizabeth Mallinckrodt Department of PediatricsWashington University School of MedicineSt. LouisUSA

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