Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?

Am J Med Genet A. 2006 Oct 1;140(19):2135-8. doi: 10.1002/ajmg.a.31418.


A hitherto unknown combination of multiple bifid ribs, as seen in Gorlin syndrome (GS), interpedicular fusion and apparent malsegmentation of vertebral laminae at various upper thoracic levels was found in the skeleton of a newborn infant. This specific combination of anomalies is also seen in the mouse open brain (opb) mutant. Since the genes involved in GS (Patched2) and opb (rab23) both play an essential role in the hedgehog signaling pathway, it is likely that the cause of the anomalies presented here is to be sought in impaired functioning of this pathway.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Animals
  • Basal Cell Nevus Syndrome / diagnosis*
  • Basal Cell Nevus Syndrome / genetics
  • Basal Cell Nevus Syndrome / pathology
  • Diagnosis, Differential
  • Humans
  • Infant, Newborn
  • Mice
  • Mutation
  • Phenotype
  • Ribs / abnormalities*
  • Spine / abnormalities*