Nonsyndromic Craniosynostosis

Abstract

Nonsyndromic craniosynostosis is more commonly encountered than syndromic cases in pediatric craniofacial surgery. Affected children display characteristic phenotypes according to the suture or sutures involved. Restricted normal growth of the skull can lead to increased intracranial pressure and changes in brain morphology, which in turn may contribute to neurocognitive deficiency. Management has primarily focused on surgical correction of fused sutures prior to 12 months of age to optimize correction of the deformity and to ameliorate the effects of increased intracranial pressure. However, emphasis has recently shifted to better understanding the pathogenesis of neurocognitive impairment observed in these children, along with genetic mutations that contribute to premature suture fusion. Such understanding will provide opportunities for earlier and more specific neurocognitive interventions and for the development of targeted genetic therapy to prevent pathologic suture fusion. The authors review the common types of nonsyndromic craniosynostosis and the epidemiological, genetic, and neurodevelopmental details that are currently known from the literature. In addition, they present the rationale for surgical correction, offer suggestions for timing of intervention, and present some nuances of techniques that they find important in producing consistent results.

Differences in surgical outcomes for patients with craniosynostosis in the US: impact of socioeconomic variables and race

“…13 Although there are clear benefits to earlier surgical correction, surgery before 3 months of age is not recommended due to greater risk of blood loss. 5 Furthermore, infants who undergo surgical correction before 6 months of age may have higher rates of reoperation. 20 Thus, surgical intervention is generally recommended between 6 and 9 months.…”

“…Unilateral coronal synostosis occurs slightly more commonly in females (3 to 2). 5 Whether the deformity leads to increased intracranial pressure, decreases in intracranial volume, and hydrocephalus is controversial. However, multiple studies have demonstrated an association of craniosynostosis with increased intracranial pressure.…”

“…However, multiple studies have demonstrated an association of craniosynostosis with increased intracranial pressure. 5 Additionally, the condition has been shown to alter brain structures with a likely associated neurocognitive decline. 5 Although it is questionable whether surgical intervention would have an impact on the neurocognitive delays and alterations in brain morphology, the majority of craniofacial surgeons recommend early surgery (at < 1 year of age) to relieve intracranial pressure increases and improve cosmetic appearance.…”

Potential therapeutic Strategies and Its Application in Correcting Birth Defects, Craniosynostosis, Neurological Disorders and Other Diseases

“…In presentscenario developing of the molecular biology a new and very innovative consepts are coming to controlling these disease. The etiopathogenesis, neurocognitive impairment stated and we specifically observed in our day today experience in these diseases these infants are suffering in mutations (point, substitutional, deletion, addition, allelespecific, missense and haplotypes) [1].…”

“…An idea germinating in these concepts in experimental observations to overcome this globally burden. We are trying to develop and targeting genetic therapy to prevent pathologically sutural fusion and at the same time other defects by birth [1]. TNFRSF11B plus Vitamin-D Deficiency in infancy was associating with severs JPD [2] which complicated by craniosynostosis.…”