Skip to main content

Advertisement

Log in

Skull base development and craniosynostosis

  • Advances in Pediatric Neuroradiology
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Abnormal skull shape resulting in craniofacial deformity is a relatively common clinical finding, with deformity either positional (positional plagiocephaly) or related to premature ossification and fusion of the skull sutures (craniosynostosis). Growth restriction occurring at a stenosed suture is associated with exaggerated growth at the open sutures, resulting in fairly predictable craniofacial phenotypes in single-suture non-syndromic pathologies. Multi-suture syndromic subtypes are not so easy to understand without imaging. Imaging is performed to define the site and extent of craniosynostosis, to determine the presence or absence of underlying brain anomalies, and to evaluate both pre- and postoperative complications of craniosynostosis. Evidence for intracranial hypertension may be seen both pre- and postoperatively, associated with jugular foraminal stenosis, sinovenous occlusion, hydrocephalus and Chiari 1 malformations. Following clinical assessment, imaging evaluation may include radiographs, high-frequency US of the involved sutures, low-dose (20–30 mAs) CT with three-dimensional reformatted images, MRI and nuclear medicine brain imaging. Anomalous or vigorous collateral venous drainage may be mapped preoperatively with CT or MR venography or catheter angiography.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8
Fig. 9
Fig. 10

Similar content being viewed by others

References

  1. Senarath-Yapa K, Li S, Meyer NP et al (2013) Integration of multiple signaling pathways determines differences in the osteogenic potential and tissue regeneration of neural crest-derived and mesoderm-derived calvarial bones. Int J Mol Sci 14:5978–5997

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Coussens AK, Hughes IP, Wilkinson CR et al (2008) Identification of genes differentially expressed by prematurely fused human sutures using a novel in vivo–in vitro approach. Differentiation 76:531–545

    Article  CAS  PubMed  Google Scholar 

  3. Paumard-Hernández B, Berges-Soria J, Barroso E (2014) Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet. doi:10.1038/ejhg.2014.205 [Epub ahead of print]

    PubMed  Google Scholar 

  4. Senarath-Yapa K, Chung MT, McArdle A et al (2012) Craniosynostosis: molecular pathways and future pharmacologic therapy. Organogenesis 8:103–113

    Article  PubMed Central  PubMed  Google Scholar 

  5. Greenwood J, Flodman P, Osann K et al (2014) Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med 16:302–310

    Article  PubMed Central  PubMed  Google Scholar 

  6. Roscioli T, Elakis G, Cox TC et al (2013) Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. Am J Med Genet C: Semin Med Genet 163C:259–270

    Article  CAS  Google Scholar 

  7. Jacob S, Wu C, Freeman TA et al (2007) Expression of Indian Hedgehog, BMP-4 and Noggin in craniosynostosis induced by fetal constraint. Ann Plast Surg 58:215–221

    Article  CAS  PubMed  Google Scholar 

  8. Regelsberger J, Delling G, Tsokos M et al (2006) High-frequency ultrasound confirmation of positional plagiocephaly. J Neurosurg 105:413–417

    PubMed  Google Scholar 

  9. Alizadeh H, Najmi N, Mehdizade M et al (2012) Diagnostic accuracy of ultrasonic examination in suspected craniosynostosis among infants. Indian Pediatr 50:148–150

    Article  Google Scholar 

  10. Krimmel M, Will B, Wolff M et al (2012) Value of high-resolution ultrasound in the differential diagnosis of scaphocephaly and occipital plagiocephaly. Int J Oral Maxillofac Surg 41:797–800

    Article  CAS  PubMed  Google Scholar 

  11. Fearon JA, Singh DJ, Beals SP et al (2007) The diagnosis and treatment of single sutural synostoses: are CT scans necessary? Plast Reconstr Surg 120:1327–1331

    Article  CAS  PubMed  Google Scholar 

  12. Da Silva FR, de Freitas AT, Shin J et al (2010) Associated (parallel) tomographic findings in patients with single-sutural synostosis. J Craniofac Surg 21:411–413

    Article  Google Scholar 

  13. Esparza J, Hinojosa J (2008) Complications in the surgical treatment of craniosynostosis and craniofacial syndromes: apropos of 306 transcranial procedures. Childs Nerv Syst 24:1421–1430

    Article  PubMed  Google Scholar 

  14. Cetas JS, Nasseri M, Saidi T et al (2013) Delayed intracranial hypertension after cranial vault remodeling for nonsyndromic single-suture synostosis. J Neurosurg Pediatr 11:661–666

    Article  PubMed  Google Scholar 

  15. Kuang AA, Jenq T, Didier R et al (2013) Benign radiographic coronal synostosis after sagittal synostosis repair. J Craniofac Surg 24:937–940

    Article  PubMed  Google Scholar 

  16. Seruya M, Tan SY, Wray AC et al (2013) Total cranial vault remodeling for isolated sagittal synostosis: part 1. Postoperative cranial suture patency. Plast Reconstr Surg 132:602e–610e

    Article  CAS  PubMed  Google Scholar 

  17. Woods RH, Ul-Haq E, Wilkie AO et al (2009) Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 123:1801–1810

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  18. Foo R, Guo Y, McDonald-McGinn DM et al (2009) The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. Plast Reconstr Surg 124:2085–2095

    Article  CAS  PubMed  Google Scholar 

  19. Raybaud CR, Di Rocco C (2007) Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst 23:1379–1388

    Article  PubMed  Google Scholar 

  20. Hukki A, Koljonen V, Karppinen A et al (2012) Brain anomalies in 121 children with non-syndromic single suture craniosynostosis by MR imaging. Eur J Paediatr Neurol 16:671–675

    Article  CAS  PubMed  Google Scholar 

  21. Eley KA, Watt-Smith SR, Sheerin F et al (2014) ‘Black Bone’ MRI: a potential alternative to CT with three-dimensional reconstruction of the craniofacial skeleton in the diagnosis of craniosynostosis. Eur Radiol 24:2417–2426

    Article  PubMed  Google Scholar 

  22. Tamburrini G, Caldarelli M, Massimi L et al (2012) Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst 28:1511–1523

    Article  CAS  PubMed  Google Scholar 

  23. Barik M, Bajpai M, Das RR et al (2014) Role of 99mTc-ECD SPECT in the management of children with craniosynostosis. Biomed Res Int 2014:172646

    PubMed Central  PubMed  Google Scholar 

  24. Haas-Lude K, Krimmel M, Will B et al (2013) Lambdoid synostosis or positional plagiocephaly — a visual diagnosis. Neuropediatrics. doi:10.1055/s-0033-1337807

    Google Scholar 

  25. Linz C, Collmann H, Meyer-Marcotty P et al (2014) Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. Arch Dis Child. doi:10.1136/archdischild-2014-305944 [Epub ahead of print]

    PubMed  Google Scholar 

  26. Haas-Lude K, Wolff M, Will B et al (2014) Clinical and imaging findings in children with non-syndromic lambdoid synostosis. Eur J Pediatr 22:194–208

  27. Rhodes JL, Tye GW, Fearon JA (2014) Craniosynostosis of the lambdoid suture. Semin Plast Surg 28:138–143

    Article  PubMed Central  PubMed  Google Scholar 

  28. Boyadjiev SA (2007) International craniosynostosis consortium: genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res 10:129–137

    Article  CAS  PubMed  Google Scholar 

  29. Massimi L, Caldarelli M, Tamburrini G et al (2012) Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst 28:1311–1317

    Article  PubMed  Google Scholar 

  30. Lin IC, Slemp AI, Hwang C et al (2007) Dihydrotestosterone stimulates proliferation and differentiation of fetal calvarial osteoblasts and dural cells and induces cranial suture fusion. Plast Reconstr Surg 120:1137–1147

    Article  CAS  PubMed  Google Scholar 

  31. Giumarães-Ferreira J, Gewalli F, David L et al (2006) Sagittal synostosis: I. Preoperative morphology of the skull. Scand J Plast Reconstr Surg Hand Surg 40:193–199

    Article  Google Scholar 

  32. Lee HQ, Hutson JM, Wray AC et al (2012) Changing epidemiology of nonsyndromic craniosynostosis and revisiting the risk factors. J Craniofac Surg 23:1245–1251

    Article  PubMed  Google Scholar 

  33. Azimi C, Kennedy SJ, Chitayat D et al (2003) Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A 117:127–135

    Google Scholar 

  34. Goodrich JT (2005) Skull base growth in craniosynostosis. Childs Nerv Syst 21:871–879

    Article  PubMed  Google Scholar 

  35. Van der Meulen J (2012) Metopic synostosis. Childs Nerv Syst 28:1359–1367

    Article  PubMed Central  PubMed  Google Scholar 

  36. Birgfeld CB, Saltzman BS, Hing AV et al (2013) Making the diagnosis: metopic ridge versus metopic craniosynostosis. J Craniofac Surg 24:178–185

    Article  PubMed  Google Scholar 

  37. Rosenberg JB, Tepper OM, Medow NB (2013) Strabismus in craniosynostosis. J Pediatr Ophthalmol Strabismus 50:140–148

    Article  PubMed  Google Scholar 

  38. Dundulis JA, Becker DB, Govier DP et al (2004) Coronal ring involvement in patients treated for unilateral coronal craniosynostosis. Plast Reconstr Surg 114:1695–1703

    Article  PubMed  Google Scholar 

  39. Seto ML, Hing AV, Chang J et al (2007) Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A 143:678–686

    Article  Google Scholar 

  40. (2014) Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). http://www.ncbi.nim.nih.gov/omim. Accessed 13 Dec 2014

  41. Sauerhammer TM, Oh AK, Boyajian M et al (2014) Isolated frontosphenoidal synostosis: a rare cause of synostotic frontal plagiocephaly. J Neurosurg Pediatr 13:553–558

    Article  PubMed  Google Scholar 

  42. Schmelzer RE, Fearon JA (2007) ‘Z-pattern’ craniosynostosis: a novel pattern of trisutural fusion. J Craniofac Surg 18:568–574

    Article  PubMed  Google Scholar 

  43. Rhodes JL, Kolar JC, Fearon JA (2010) Mercedes Benz pattern craniosynostosis. Plast Reconstr Surg 125:299–304

    Article  CAS  PubMed  Google Scholar 

Download references

Conflicts of interest

Drs. Blaser, Padfield, Chitayat and Forrest have no financial interests, investigational or off-label uses to disclose.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Susan I. Blaser.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Blaser, S.I., Padfield, N., Chitayat, D. et al. Skull base development and craniosynostosis. Pediatr Radiol 45 (Suppl 3), 485–496 (2015). https://doi.org/10.1007/s00247-015-3320-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-015-3320-1

Keywords

Navigation