We present the case of a North African adult woman with a craniocephaly (oxycephaly) typical of the region. Her morphologic anomaly was never officially diagnosed. The patient suffered esthetic but no functional impairment from the oxycephaly. She had no headaches or visual impairment. She refused the standard treatment, cranial osteotomy (forehead reshaping), and desired a less-invasive procedure. We corrected the receding forehead with the help of a tissue (fat) transplant (lipostructure(®)). The midface was lifted in an endoscopic procedure using ISSE APTOS suspensions. Three years later, the result is fine and stable. Many techniques exist to correct this deformity; but the lipostructure(®) initiated by Coleman is a method to correct the oxycephaly with minimal trauma.
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http://dx.doi.org/10.1016/j.anplas.2010.07.003 | 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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