There is still disagreement regarding the intracranial volumes of patients with metopic synostosis compared with healthy patients. This study aimed to compare the intracranial volume of children with metopic synostosis before and after surgery to an age- and sex-matched control cohort using three-dimensional (3D) photogrammetry. Eighteen boys with metopic synostosis were operated on using standardized fronto-orbital advancement. Frontal, posterior and total intracranial volumes were measured exactly 1 day pre-operatively and 10 days post-operatively, using 3D photogrammetry. To establish an age- and sex-matched control group, the 3D photogrammetric data of 634 healthy boys between the ages of 3 and 13 months were analyzed. Mean age at surgery was 9 months (SD 1.7). Prior to surgery, boys with metopic synostosis showed significantly reduced frontal and total intracranial volumes compared with the reference group, but similar posterior volumes. After surgery, frontal and total intracranial volumes did not differ statistically from the control group. As children with metopic synostosis showed significantly smaller frontal and total intracranial volumes compared with an age- and sex-matched control group, corrective surgery should aim to achieve volume expansion. Furthermore, 3D photogrammetry provides a valuable alternative to CT scans in the measurement of intracranial volume in children with metopic synostosis, which significantly reduces the amount of radiation exposure to the growing brain.
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http://dx.doi.org/10.1016/j.jcms.2015.02.017 | DOI Listing |
Bone Res
January 2025
Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France.
Gain-of-function mutations in fibroblast growth factor receptor (FGFR) genes lead to chondrodysplasia and craniosynostoses. FGFR signaling has a key role in the formation and repair of the craniofacial skeleton. Here, we analyzed the impact of Fgfr2- and Fgfr3-activating mutations on mandibular bone formation and endochondral bone repair after non-stabilized mandibular fractures in mouse models of Crouzon syndrome (Crz) and hypochondroplasia (Hch).
View Article and Find Full Text PDFCleft Palate Craniofac J
January 2025
Division of Plastic and Reconstructive Surgery, The Warren Alpert Medical School of Brown University, Providence, RI, USA.
Craniosynostosis, a condition marked by the premature fusion of one or more cranial sutures, exhibits diverse phenotypes. This study aims to advance the understanding of these phenotypes beyond the conventional 2-dimensional analysis by focusing on identifying indicators of increased intracranial pressure (ICP) such as bony thinning or irregularities in skull morphology. A retrospective review was conducted for all pediatric patients with midline craniosynostosis who presented to our tertiary academic center for evaluation.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
J Craniofac Surg
January 2025
Department of Biomedical Engineering, University of Illinois, Chicago, IL.
Bioabsorbable internal fixation is a well-accepted modality that is especially suitable for application in craniosynostosis. When first introduced, high rates of adverse tissue reactions were observed that have since been ameliorated with more biocompatible polymer formulations. However, the phenomenon has not entirely disappeared, and such reactions remain vexing.
View Article and Find Full Text PDFMol Ther Nucleic Acids
March 2025
Department of Biology, Faculty of Medicine, Masaryk University, 62500 Brno, Czechia.
Impaired fibroblast growth factor receptor (FGFR) signaling is associated with many human conditions, including growth disorders, degenerative diseases, and cancer. Current FGFR therapeutics are based on chemical inhibitors of FGFR tyrosine kinase activity (TKIs). However, FGFR TKIs are limited in their target specificity as they generally inhibit all FGFRs and other receptor tyrosine kinases.
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