The following research articles have been fully or partially funded by the ADRF.

Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome

A Khominsky, R Yong, S Ranjitkar, G Townsend, PJ Anderson

Crouzon syndrome is a common craniofacial disorder, characterised by premature fusion of cranial sutures and a short midface. It can lead to life-threatening complications, which frequently require invasive surgeries. FGFR2 gene mutations are a known cause of the syndrome. In order to better understand how patients will respond to novel treatments, better characterisation of the association between the genetic make-up and observable characteristics is required. We used a genetically-engineered mouse model to investigate an FGFR2 mutation in orofacial and dental development.