TY - JOUR
T1 - Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome
AU - Khominsky, Alexander
AU - Yong, Robin
AU - Ranjitkar, Sarbin
AU - Townsend, Grant
AU - Anderson, Peter J.
N1 - Funding Information:
The author acknowledges the assistance of Ms Ruth Williams from Adelaide Microscopy with micro-CT analysis and the Women’s and Children’s Hospital (Adelaide) for housing the animal colony. This study was supported by the Australian Cranio-Maxillo Facial Foundation and the Australian Dental Research Foundation Inc.
PY - 2018/2
Y1 - 2018/2
N2 - Objectives Fibroblast growth factor receptor 2 (FGFR2) C342Y/+ mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation. Materials and methods Morphometric data were obtained from 40 mice, representing two genotypes (Crouzon and wild-type) and two sexes (males and females) (n = 10 in each group). Dental analysis further categorised the first molars into the two jaws (maxillary and mandibular) (n = 20 in each group). Maxillary, mandibular and dental morphology was compared by analysing 23 linear landmark-based dimensions in three-dimensional micro-computed tomography reconstructions. Results Compared with wild-type, Crouzon (FGFR2C342Y/+) maxillae were significantly shorter in maximum height, anterior and posterior lengths and middle width, but larger in posterior width (p < 0.05 for height; p < 0.001 for other comparisons). In the Crouzon mandible, the ascending and descending heights, effective and mandibular lengths, and intercoronoid and intercondylar widths were significantly shorter, whereas intergonial width was larger (p < 0.01 for intercondylar width; p < 0.001 for other comparisons). Crouzon teeth were significantly smaller mesiodistally, but larger in crown height (p < 0.001 for each comparison). All Crouzon mice presented with bifid mandibular condyles and a quarter presented with expansive bone lesions in the mandibular incisor alveolus. Conclusions Our findings of hypoplasia in all three planes in Crouzon maxillae and mandibles, together with the presence of bifid mandibular condyles and expansive bone lesions, may be relevant to maxillofacial surgery and orthodontics. Beyond skeletal effects, the FGFR2C342Y/+ mutation is now implicated in affecting tooth development. This study's skeletal phenomics data also provides baseline data against which the effect of various treatments can now be assessed.
AB - Objectives Fibroblast growth factor receptor 2 (FGFR2) C342Y/+ mutation is a known cause of Crouzon syndrome that is characterised by craniosynostosis and midfacial hypoplasia. Our aim was to conduct extensive phenotyping of the maxillary, mandibular and dental morphology associated with this mutation. Materials and methods Morphometric data were obtained from 40 mice, representing two genotypes (Crouzon and wild-type) and two sexes (males and females) (n = 10 in each group). Dental analysis further categorised the first molars into the two jaws (maxillary and mandibular) (n = 20 in each group). Maxillary, mandibular and dental morphology was compared by analysing 23 linear landmark-based dimensions in three-dimensional micro-computed tomography reconstructions. Results Compared with wild-type, Crouzon (FGFR2C342Y/+) maxillae were significantly shorter in maximum height, anterior and posterior lengths and middle width, but larger in posterior width (p < 0.05 for height; p < 0.001 for other comparisons). In the Crouzon mandible, the ascending and descending heights, effective and mandibular lengths, and intercoronoid and intercondylar widths were significantly shorter, whereas intergonial width was larger (p < 0.01 for intercondylar width; p < 0.001 for other comparisons). Crouzon teeth were significantly smaller mesiodistally, but larger in crown height (p < 0.001 for each comparison). All Crouzon mice presented with bifid mandibular condyles and a quarter presented with expansive bone lesions in the mandibular incisor alveolus. Conclusions Our findings of hypoplasia in all three planes in Crouzon maxillae and mandibles, together with the presence of bifid mandibular condyles and expansive bone lesions, may be relevant to maxillofacial surgery and orthodontics. Beyond skeletal effects, the FGFR2C342Y/+ mutation is now implicated in affecting tooth development. This study's skeletal phenomics data also provides baseline data against which the effect of various treatments can now be assessed.
KW - Craniofacial phenomics
KW - Craniosynostosis
KW - FGFR2
KW - Mandible
KW - Maxilla
KW - Tooth
UR - http://www.scopus.com/inward/record.url?scp=85037642432&partnerID=8YFLogxK
U2 - 10.1016/j.archoralbio.2017.10.022
DO - 10.1016/j.archoralbio.2017.10.022
M3 - Article
C2 - 29223639
AN - SCOPUS:85037642432
SN - 0003-9969
VL - 86
SP - 123
EP - 130
JO - Archives of Oral Biology
JF - Archives of Oral Biology
ER -