Pädiatrie

In 20-30% of cases, primary multisutural craniosynostosis is observed in the context of complex syndromic diseases, which usually follow an autosomal dominant transmission pattern.

“In 20–30% of cases, primary multisutural craniosynostosis is observed in the context of complex syndromic diseases, which usually follow an autosomal dominant transmission pattern [4, 17].”

These syndromes are increasingly caused by autosomal-dominant mutations in genes that influence cartilage and bone growth, such as fibroblast growth factor genes 1-3 and the TWIST1 gene.

“These syndromes are increasingly caused by autosomal-dominantly caused mutations in genes that influence cartilage and bone growth, such as mutations in the fibroblast growth factor gene 1–3 on chromosomes 4, 8, 10 and the TWIST 1 gene on chromosome 7 [4, 16, 18].”

Abnormal head shape, occlusion of sutures, and disproportion between brain growth and skull size can result in increased intracranial pressure and developmental disorders.

“In addition, the abnormal characteristic head shape, the occlusion of usually several sutures and consecutive disproportion between brain growth and skull size can result in organic complications, including increased intracranial pressure (ICP) and developmental disorders [3, 4].”

Ossification of the sagittal suture leads to a longitudinal skull known as scaphocephaly, with reduced bitemporal dimension and compensatory anterior-posterior lengthening.

“Ossification of the sagittal suture leads to a longitudinal skull, known as scaphocephaly [4, 16]. This shows a characteristic skull deformity, characterised by a reduced extension of the bitemporal dimension and a compensatory lengthening of the skull in the anterior–posterior direction.”