Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. Detailed phenotypic characterisation of features in the membranous calvarium, the endochondral cranial base and other structures in the axial and appendicular skeleton has not been performed at embryonic stages. We investigated bone development ...

Cleft palate is a common birth defect in humans and is a common phenotype associated with syndromic mutations in fibroblast growth factor receptor 2 (Fgfr2). Cleft palate occurred in nearly all mice homozygous for the Crouzon syndrome mutation C342Y in the mesenchymal splice form of Fgfr2. Mutant embryos showed delayed palate elevation, stage-specific biphasic changes in palate mesenchymal prol...

IMPORTANCE We report 2 new cases of tracheal cartilaginous sleeve and perform a systematic literature review of all documented cases of this condition. We aim to increase awareness of this anomaly and provide recommendations for both intraoperative and postoperative management of patients with tracheal cartilaginous sleeve undergoing tracheostomy. OBSERVATIONS We studied the clinical records ...

BACKGROUND Craniosynostosis, the premature fusion of 1 or more sutures of the skull, is a common congenital defect, with a prevalence of 1 in 2500 live births. Untreated progressive craniosynostosis leads to inhibition of brain growth and increased intracranial and intraorbital pressure. The heterogeneity of clinical phenotypes and the overlap of the various associated syndromes render the corr...

AIMS To demonstrate the expression patterns of two fibroblast growth factor receptors (FGFR-2 and FGFR-3) in the normal human fetal orbit. METHODS 6 microm orbital slide sections were prepared from 12 week old human fetal material obtained within established ethical guidelines. Radioactive in situ hybridisation techniques were used to demonstrate the expression patterns of FGFR-2 and FGFR-3 w...

S equence variations within splice sites may pose problems in the interpretation of their pathogenic effect, especially when these variations occur outside the highly conserved /gt (donor or 59 site) and ag/ (acceptor or 39 site) consensus dinucleotides that immediately flank most exons. A commonly used method to evaluate the probable effect of a sequence variation on splicing is to calculate t...

• Adults with craniofacial conditions felt different and sought belongingness. A dialogue about psychological emotional aspects of surgery is important. Participants also wanted follow-up care to include adjustment. emphasised the importance family support who see them as they are. Building strong friendships was experienced demanding. The purpose this study better understand how individuals ex...