Interaction between Foxc1 and Fgf8 during mammalian jaw patterning and in the pathogenesis of syngnathia.

ABSTRACT: Syngnathia (bony fusion of the upper and lower jaw) is a rare human congenital condition, with fewer than sixty cases reported in the literature. Syngnathia typically presents as part of a complex syndrome comprising widespread oral and maxillofacial anomalies, but it can also occur in isolation. Most cartilage, bone, and connective tissue of the head and face is derived from neural crest cells. Hence, congenital craniofacial anomalies are often attributed to defects in neural crest cell formation, survival, migration, or differentiation. The etiology and pathogenesis of syngnathia however remains unknown. Here, we report that Foxc1 null embryos display bony syngnathia together with defects in maxillary and mandibular structures, and agenesis of the temporomandibular joint (TMJ). In the ab

SUBMITTER: Inman KE 

PROVIDER: S-EPMC3868537 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature