Bifid ribs and unusual vertebral anomalies diagnosed in an anatomical specimen. Gorlin syndrome?
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.
Oostra
Roelof-Jan
RJ
Department of Anatomy & Embryology, Academic Medical Center, University of Amsterdam, The Netherlands. r.j.oostra@amc.uva.nl
Maas
Mario
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D051379:Mice; D009154:Mutation; D010641:Phenotype; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*