Persistent buccohypophyseal canal and Shh pathway-related abnormalities in ciliary mutants. (a) At E18.5, there is no midline foramen in the basisphenoid bone of wild-type mouse embryos. (b) In Polarisfl/fl; Wnt1-Cre mutants at E18.5, a large defect in the basisphenoid (green arrow) is associated with a midline maxillary cleft (blue arrowhead). (c) Histological staining showing an open buccohypophyseal canal at E18.5 in a Polarisfl/fl; Wnt1-Cre mutant (red arrow). (d) Basisphenoid defect in a Kif3a-/- mutant at E18.5 (blue arrowheads) with bulging of the pituitary towards the oral cavity. (e) Duplication of the nasal septum in an Ofd1-/- mutant at E18.5 (blue arrowhead). (f) Basisphenoid defect under the pituitary at E18.5 in an Ofd1-/- mutant (blue arrowheads). (g) Incomplete median upper lip cleft in a patient with an OFD1 mutation (black arrows). (h) Ossification defect of the sphenoid bone in the same patient (red arrowhead); standard medical computed tomography scan, mid-sagittal view at 16 years old.
Khonsari et al. BMC Biology 2013 11:27 doi:10.1186/1741-7007-11-27