TY  - JOUR
AV  - public
JF  - Journal of Anatomy
N1  - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions.
SN  - 0021-8782
ID  - discovery10161211
PB  - Wiley-Blackwell
Y1  - 2023/03//
VL  - 242
A1  - Hoshino, Yukiko
A1  - Takechi, Masaki
A1  - Moazen, Mehran
A1  - Steacy, Miranda
A1  - Koyabu, Daisuke
A1  - Furutera, Toshiko
A1  - Ninomiya, Youichirou
A1  - Nuri, Takashi
A1  - Pauws, Erwin
A1  - Iseki, Sachiko
IS  - 3
N2  - 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.
TI  - Synchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis
KW  - Apert syndrome
KW  -  coronal suture
KW  -  craniosynostosis
KW  -  Crouzon syndrome
KW  -  geometric morphometrics
KW  -  inter-sphenoid synchondrosis
KW  -  midfacial hypoplasia
KW  -  Saethre-Chotzen syndrome
UR  - https://doi.org/10.1111/joa.13790
ER  -