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

Pediatr Radiol. 1993;23(1):37-40. doi: 10.1007/BF02020219.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Disorders of Sex Development / diagnosis*
  • Fingers / abnormalities
  • Humans
  • Infant, Newborn
  • Lipoma / congenital*
  • Magnetic Resonance Imaging
  • Male
  • Pituitary Neoplasms / congenital*
  • Syndrome
  • Toes / abnormalities