Update in Management of Craniosynostosis

Abstract

raniosynostosis refers to skull deformities caused by premature fusion of one or more sutures (Fig. 1). The incidence is estimated to be one in 2500 births. 1,2 More than 80 percent are isolated or nonsyndromic. The suture affected has a gender predisposition, with sagittal synostosis being four times more common in boys, and unicoronal synostosis 1.5 times more common in girls. 1,2 The pathogenesis of premature fusion in craniosynostosis remains unclear. There have been many hypotheses over the years, including intrauterine constraint, 3-7 hypophosphatemia and rickets, 8,9 maternal smoking, 10,11 and excessive use of antacids during infancy. 12 None were strongly supported.With the development of better genetic sequence technologies, more and more mutations have been identified in individuals with congenital abnormalities, and craniosynostosis is no exception. Recently, isolated sagittal synostosis has been linked to a mutation in the BBS9 gene 13 and metopic synostosis to a mutation in the FREM1 gene, 14 but the clinical significance of these findings is unclear. Other genes identified include SMAD6, which account for 7 percent of nonsyndromic sagittal and metopic synostosis, and 10 percent of familial cases. 15 A recent study demonstrated that the SMAD6 mutation may lead to poorer neurocognitive outcome as well. 16 Several mutations have been identified for syndromic craniosynostosis. Of these, the most common are the fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). FGFR is a group of 22 proteins that regulate proliferation, differentiation, and migration of cells that are essential for wound healing, angiogenesis, and limb development. There are several craniosynostosis syndromes linked to mutations in this group of genes. Mutation in FGFR2 is linked to Apert, Crouzon and Beare-Stevenson syndromes. Pfeiffer syndrome is linked to mutations in both FGFR1 and FGFR2 mutations. Muenke syndrome and Crouzon with acanthosis nigricans are linked to FGFR3 mutations. 17 Saethre-Chotzen syndrome is associated with more than 100 mutations in the TWIST1 gene, 18 which codes for a transcription factor that specifies and maintains cellular identity.

Smartphone Integration of Artificial Intelligence for Automated Plagiocephaly Diagnosis

“…32 Finally, the implementation of easy-to-use AI tools in the clinical environment gains importance in the context of longitudinal monitoring for synostotic plagiocephaly, particularly in cases of single-suture fusion where surgical intervention is either (a) not indicated or (b) delayed with continuous monitoring to optimize perioperative safety. 33 In these cases, the standard for clinical diagnosis is high-resolution three-dimensional computed tomography. Given the movement to radiation and anesthesia stewardship in pediatric populations, implementing a nonradiographic modality without anesthesia in infants to longitudinally monitor head development (alongside serial ophthalmologic examinations) could be a valuable tool in the pocket of pediatricians and consulting specialists alike.…”

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

“…Given the patient's microcephaly and synostosis, we considered surgical treatment. However, surgical reconstruction for craniosynostosis is generally performed within the first year of life ( 14 ). Our patient was already 5 years old when she visited our clinic for the first time, and global developmental delay was severe.…”

Evaluation, treatment, complications, and prognosis of craniosynostosis

“…Removal of the fused suture, also known as suturectomy or strip craniotomy, has been the most typical surgical way forward for craniosynostosis for decades. 26 These open procedures are predominantly mechanical in nature and include the removal of bony structures, along with reshaping and remodeling of the skull. In addition to open surgical remodeling, spring directed skull growth has also been found to achieve the same purpose.…”