The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity

Virchows Arch A Pathol Anat Histopathol. 1984;404(4):413-25. doi: 10.1007/BF00695225.


An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20-22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.

Publication types

  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Central Nervous System / abnormalities*
  • Digestive System Abnormalities*
  • Extremities / blood supply
  • Extremities / innervation
  • Face / abnormalities*
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant, Newborn
  • Islets of Langerhans / abnormalities*
  • Limb Deformities, Congenital*
  • Lung / abnormalities*
  • Skull / abnormalities*
  • Syndrome
  • Urinary Tract / abnormalities*