title: Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice.
abstract: BACKGROUND
  Quantifying multiple phenotypic aspects of individual craniofacial bones across early osteogenesis illustrates differences in typical bone growth and maturation and provides a basis for understanding the localized and overall influence of mutations associated with disease. We quantify the typical pattern of bone growth and maturation during early craniofacial osteogenesis and determine how this pattern is modified in Fgfr2(+/P253R) Apert syndrome mice.
  
  
  RESULTS
  Early differences in typical relative bone density increase are noted between intramembranous and endochondral bones, with endochondral bones normally maturing more quickly during the prenatal period. Several craniofacial bones, including the facial bones of Fgfr2(+/P253R) mice, display lower volumes during the earliest days of osteogenesis and lower relative densities until the perinatal period relative to unaffected littermates.
  
  
  CONCLUSIONS
  Estimates of bone volume and linear measures describing morphology do not necessarily covary, highlighting the value of quantifying multiple facets of gross osteological phenotypes when exploring the influence of a disease causing mutation. Differences in mechanisms of osteogenesis likely underlie differences in intramembranous and endochondral relative density increase. The influence of the FGFR2 P253R mutation on bone volume changes across the prenatal period and again after birth, while its influence on relative bone density is more stable.
authors: Department of Anthropology, Penn State University, University Park, Pennsylvania.
authors: Christopher J
authors: CJ
authors: Percival
authors: Yuan
authors: Y
authors: Huang
authors: Ethylin Wang
authors: EW
authors: Jabs
authors: Runze
authors: R
authors: Li
authors: Joan T
authors: JT
authors: Richtsmeier
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D015519:Bone Density; D001846:Bone Development / Q000502:physiology*; D004622:Embryo, Mammalian / Q000196:embryology*; D051379:Mice; D008817:Mice, Mutant Strains; D020125:Mutation, Missense; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics / Q000378:metabolism*; D012886:Skull / Q000196:embryology*
chemical_list: C496354:Fgfr2 protein, mouse; D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Apert syndrome; bone development; functional regression analysis; micro-computed tomography