eprintid: 10161211
rev_number: 11
eprint_status: archive
userid: 699
dir: disk0/10/16/12/11
datestamp: 2022-12-02 11:36:30
lastmod: 2024-11-07 15:15:35
status_changed: 2022-12-02 11:36:30
type: article
metadata_visibility: show
sword_depositor: 699
creators_name: Hoshino, Yukiko
creators_name: Takechi, Masaki
creators_name: Moazen, Mehran
creators_name: Steacy, Miranda
creators_name: Koyabu, Daisuke
creators_name: Furutera, Toshiko
creators_name: Ninomiya, Youichirou
creators_name: Nuri, Takashi
creators_name: Pauws, Erwin
creators_name: Iseki, Sachiko
title: Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis
ispublished: pub
subjects: GOSH
divisions: UCL
divisions: B02
divisions: B04
divisions: C05
divisions: D13
divisions: F45
divisions: G22
keywords: Apert syndrome, coronal suture, craniosynostosis, Crouzon syndrome, geometric morphometrics, inter-sphenoid synchondrosis, midfacial hypoplasia, Saethre-Chotzen syndrome
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: 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 (Fgfr2S252W/+ ) around 3 weeks old as seen in Crouzon syndrome model mice (Fgfr2cC342Y/+ ). 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 Fgfr2S252W/+ and Fgfr2cC342Y/+ mice, while Saethre-Chotzen syndrome model mice (Twist1+/- ) 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.
date: 2023-03
date_type: published
publisher: Wiley-Blackwell
official_url: https://doi.org/10.1111/joa.13790
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1991727
doi: 10.1111/joa.13790
lyricists_name: Moazen, Mehran
lyricists_name: Pauws, Erwin
lyricists_id: MMOAZ42
lyricists_id: EPAUW82
actors_name: Pauws, Erwin
actors_id: EPAUW82
actors_role: owner
funding_acknowledgements: EP/W008092/1 [Engineering and Physical Sciences Research Council]
full_text_status: public
publication: Journal of Anatomy
volume: 242
number: 3
event_location: England
issn: 0021-8782
citation:        Hoshino, Yukiko;    Takechi, Masaki;    Moazen, Mehran;    Steacy, Miranda;    Koyabu, Daisuke;    Furutera, Toshiko;    Ninomiya, Youichirou;             ... Iseki, Sachiko; + view all <#>        Hoshino, Yukiko;  Takechi, Masaki;  Moazen, Mehran;  Steacy, Miranda;  Koyabu, Daisuke;  Furutera, Toshiko;  Ninomiya, Youichirou;  Nuri, Takashi;  Pauws, Erwin;  Iseki, Sachiko;   - view fewer <#>    (2023)    Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.                   Journal of Anatomy , 242  (3)      10.1111/joa.13790 <https://doi.org/10.1111/joa.13790>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10161211/1/Hoshino%20et%20al_JAnat_Accepted%20version.pdf