Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis
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- Yukiko Hoshino
- Department of Molecular Craniofacial Embryology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan
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- Masaki Takechi
- Department of Molecular Craniofacial Embryology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan
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- Mehran Moazen
- Department of UCL Mechanical Engineering University College London London UK
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- Miranda Steacy
- Institute of Child Health, Great Ormond Street University College London London UK
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- Daisuke Koyabu
- Department of Molecular Craniofacial Embryology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan
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- Toshiko Furutera
- Department of Molecular Craniofacial Embryology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan
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- Youichirou Ninomiya
- Research Organization of Information and Systems National Institute of Informatics Tokyo Japan
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- Takashi Nuri
- Department of Plastic and Reconstructive Surgery Osaka Medical and Pharmaceutical University Osaka Japan
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- Erwin Pauws
- Institute of Child Health, Great Ormond Street University College London London UK
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- Sachiko Iseki
- Department of Molecular Craniofacial Embryology Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU) Tokyo Japan
抄録
<jats:title>Abstract</jats:title><jats:p>Syndromic craniosynostosis (CS) patients exhibit early, bony fusion of calvarial sutures and cranial synchondroses, resulting in craniofacial dysmorphology. In this study, we chronologically evaluated skull morphology change after abnormal fusion of the sutures and synchondroses in mouse models of syndromic CS for further understanding of the disease. We found fusion of the inter‐sphenoid synchondrosis (ISS) in Apert syndrome model mice (<jats:italic>Fgfr2</jats:italic><jats:sup><jats:italic>S252W</jats:italic>/+</jats:sup>) around 3 weeks old as seen in Crouzon syndrome model mice (<jats:italic>Fgfr2c</jats:italic><jats:sup><jats:italic>C342Y</jats:italic>/+</jats:sup>). We then examined ontogenic trajectories of CS mouse models after 3 weeks of age using geometric morphometrics analyses. Antero‐ventral growth of the face was affected in <jats:italic>Fgfr2</jats:italic><jats:sup><jats:italic>S252W</jats:italic>/+</jats:sup> and <jats:italic>Fgfr2c</jats:italic><jats:sup><jats:italic>C342Y</jats:italic>/+</jats:sup> mice, while Saethre–Chotzen syndrome model mice (<jats:italic>Twist1</jats:italic><jats:sup>+/−</jats:sup>) did not show the ISS fusion and exhibited a similar growth pattern to that of control littermates. Further analysis revealed that the coronal suture synostosis in the CS mouse models induces only the brachycephalic phenotype as a shared morphological feature. Although previous studies suggest that the fusion of the facial sutures during neonatal period is associated with midface hypoplasia, the present study suggests that the progressive postnatal fusion of the cranial synchondrosis also contributes to craniofacial dysmorphology in mouse models of syndromic CS. These morphological trajectories increase our understanding of the progression of syndromic CS skull growth.</jats:p>
収録刊行物
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- Journal of Anatomy
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Journal of Anatomy 242 (3), 387-401, 2022-11-17
Wiley
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キーワード
詳細情報 詳細情報について
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- CRID
- 1360298754812496640
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- ISSN
- 14697580
- 00218782
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- データソース種別
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- Crossref
- KAKEN