Nasal gliomas (nasal glial heterotopia) are rare benign congenital frontonasal lesions occurring in approximately 1:20.000-40,000 live births. The diagnosis is rarely reported prenatally. Nasal gliomas are typically isolated lesions, with syndromic association being exceedingly rare. Metopic craniosynostosis can occur as an isolated abnormality or in association with multiple syndromes. This ca...

Craniosynostosis (CS) is the premature fusion of cranial sutures during embryonic development, and this results in intracranial pressure skull deformities. Thyrotoxicosis, specifically maternal hyperthyroidism, has been linked to development CS. Our lab currently validating an avian model thyroxine-induced CS study mechanism involved thyroxine-enhanced ossification. We hypothesized that thyroxi...

Introduction: In contrast to endochondral growth with ossification of a pre-existing cartilaginous matrix, cranial sutures act as intramembranous bone growth sites. New bone is produced at the sutural edges by proliferation of mesenchymal cells and subsequent differentiation into osteoblasts. The suture itself remains in an unossified stage in which maintenance of growth at the osteogenic front...

Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). Here we show that mice carrying a Pro250Arg mutation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-posteriorly shortened, laterally widened and vertically heightened...

Craniofacial development is the major focus of attention in surgical treatments for craniosynostosis. Growth rate, size, shape, and proportion soft tissue bone structures skull face are determinant factors establishment vital functions swallowing breathing, as well aesthetic balance facial features, so important patient's psychological identity. This manuscript revisits concept craniosynostosis...

The mammalian cranial vault largely consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Premature closure of the cranial sutures, craniosynostosis, can lead to serious clinical pathology unless there is surgical intervention. Research into the genetic basis of the disease has led to the development of various animal models that display ...

The mammalian Nell1 gene encodes a protein kinase C-beta1 (PKC-beta1) binding protein that belongs to a new class of cell-signaling molecules controlling cell growth and differentiation. Over-expression of Nell1 in the developing cranial sutures in both human and mouse induces craniosynostosis, the premature fusion of the growing cranial bone fronts. Here, we report the generation, positional c...

BACKGROUND Twist1 and Twist2 are highly homologous bHLH transcription factors that exhibit extensive highly overlapping expression profiles during development. While both proteins have been shown to inhibit osteogenesis, only Twist1 haploinsufficiency is associated with the premature synostosis of cranial sutures in mice and humans. On the other hand, biallelic Twist2 deficiency causes only a f...