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Phenotypic features of achondroplasia include macrocephaly with frontal bossing, midface hypoplasia, disproportionate shortening of the extremities, brachydactyly with trident configuration of the hand, and bowed legs. The condition is defined primarily on postnatal effects on bone and cartilage, and embryonic development of tissues in affected individuals is not well studied. Using the <jats:italic>Fgfr3<\/jats:italic><jats:sup><jats:italic>Y367C\/+<\/jats:italic><\/jats:sup> mouse model of achondroplasia, we investigated the developing chondrocranium and Meckel's cartilage (MC) at embryonic days (E)14.5 and E16.5. Sparse hand annotations of chondrocranial and MC cartilages visualized in phosphotungstic acid enhanced three\u2010dimensional (3D) micro\u2010computed tomography (microCT) images were used to train our automatic deep learning\u2010based 3D segmentation model and produce 3D isosurfaces of the chondrocranium and MC. Using 3D coordinates of landmarks measured on the 3D isosurfaces, we quantified differences in the chondrocranium and MC of <jats:italic>Fgfr3<\/jats:italic><jats:sup><jats:italic>Y367C\/+<\/jats:italic><\/jats:sup> mice relative to those of their unaffected littermates. Statistically significant differences in morphology and growth of the chondrocranium and MC were found, indicating direct effects of this <jats:italic>Fgfr3<\/jats:italic> mutation on embryonic cranial and pharyngeal cartilages, which in turn can secondarily affect cranial dermal bone development. Our results support the suggestion that early therapeutic intervention during cartilage formation may lessen the effects of this condition.<\/jats:p>","DOI":"10.1002\/ar.25327","type":"journal-article","created":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T10:31:37Z","timestamp":1695637897000},"page":"1893-1911","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Embryonic cranial cartilage defects in the <scp><i>Fgfr3<\/i><sup><i>Y367C<\/i><\/sup><\/scp><sup><i>\/+<\/i><\/sup> mouse model of achondroplasia"],"prefix":"10.1002","volume":"308","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3412-221X","authenticated-orcid":false,"given":"Susan M.","family":"Motch Perrine","sequence":"first","affiliation":[{"name":"Department of Anthropology The Pennsylvania State University  University Park Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishchal","family":"Sapkota","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Engineering University of Notre Dame  Notre Dame Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiko","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Department of Anthropology The Pennsylvania State University  University Park Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yejia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Engineering University of Notre Dame  Notre Dame Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny Z.","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Engineering University of Notre Dame  Notre Dame Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mizuho","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Department of Anthropology The Pennsylvania State University  University Park Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily L.","family":"Durham","sequence":"additional","affiliation":[{"name":"Department of Anthropology The Pennsylvania State University  University Park Pennsylvania USA"},{"name":"Department of Pediatrics, Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Heuz\u00e9","sequence":"additional","affiliation":[{"name":"Univ. 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