Craniosynostosis

Craniosynostosis is the premature fusion of one or more fibrous joints between skull bones. It can restrict skull growth perpendicular to the fused suture and alter head shape.

Cranial sutures: Fibrous joints between the bones of an infant’s skull that allow skull growth during brain development. Craniosynostosis occurs when one or more of these joints fuse prematurely.
Virchow's law: A principle stating that skull growth is restricted perpendicular to a fused suture and may increase parallel to it. It predicts the characteristic directional skull-shape changes in craniosynostosis.
Sagittal synostosis: Craniosynostosis caused by premature fusion of the sagittal suture. This common form typically produces a long, narrow skull.
Cranial ultrasound: An imaging technique that uses sound waves to examine structures beneath the skin or through open fontanelles. It can help assess cranial sutures in young infants without ionizing radiation.
FGFR2: A gene encoding fibroblast growth factor receptor 2, a protein involved in cell signaling and skeletal development. Pathogenic variants in FGFR2 cause several syndromes associated with craniosynostosis.
Fontanelle: A soft membranous gap between skull bones in an infant, where multiple cranial sutures meet. Fontanelles mark flexible spaces in the developing skull near suture junctions.
Metopic suture: The cranial suture running from the nose to the top of the forehead, normally closing during infancy. Its premature fusion can produce a triangular forehead and narrow temples.
Metopic synostosis: Craniosynostosis caused by premature fusion of the metopic suture. Its characteristic triangular forehead distinguishes it from other forms.
Computed tomography: An imaging method that combines X-ray measurements to create cross-sectional and three-dimensional views of the body. Three-dimensional images can show which sutures are fused and guide surgical planning.
FGFR3: A gene encoding fibroblast growth factor receptor 3, which regulates bone growth and development. Some FGFR3 variants cause craniosynostosis syndromes, including Muenke syndrome.

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