Background X-linked hypophosphatemia (XLH) is an inherited disease of phosphate
metabolism in which inactivating mutations of the Phosphate Regulating Endopeptidase …

Craniofacial malformations are involved in three fourths of all congenital birth defects in
humans, affecting the development of head, face, or neck. Tremendous progress in the study …

Craniosynostosis results from premature fusion of the cranial suture (s), which contain
mesenchymal stem cells (MSCs) that are crucial for calvarial expansion in coordination with …

Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many
challenges in classification and treatment. At least 20% of cases are caused by specific …

This guideline for care of children with craniosynostosis was developed by a national
working group with representatives of 11 matrix societies of specialties and the national …

The suture mesenchyme serves as a growth centre for calvarial morphogenesis and has
been postulated to act as the niche for skeletal stem cells. Aberrant gene regulation causes …

The brain originates relatively early in development from differentiated ectoderm that forms a
hollow tube and takes on an exceedingly complex shape with development. The skull is …

Craniosynostosis is a major congenital craniofacial disorder characterized by the premature
fusion of cranial suture (s). Patients with severe craniosynostosis often have impairments in …

Sutures separate the flat bones of the skull and enable coordinated growth of the brain and
overlying cranium. The coronal suture is most commonly fused in monogenic …

OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders
in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis …