Abstract
Craniosynostosis is the premature fusion of one or more skull sutures. This results in deformity of the calvarium, which is one of the clinical manifestations of this pathology. These deformities follow certain predictable clinical characteristics depending on the suture(s) involved. The clinical manifestations range from cosmetic deformity to increased intracranial pressure placing the patient at risk for cognitive, visual, and hearing impairment [1, 2]. Craniosynostosis may be broadly grouped into syndromic and non-syndromic. Exact etiology is not fully understood although several genes have been found to be involved in the pathogenesis of syndromic cases [3–6].
Similar content being viewed by others
References
Fernbach SK. Craniosynostosis 1998: concepts and controversies. Pediatr Radiol. 1998;28(9):722–8.
Schweitzer T, Bohm H, Meyer-Marcotty. Avoiding CT scans in children with single-suture craniosynostosis. Childs Nerv Syst. 2012;28(7):1077–82.
Blaumeiser B, Loquet P, Wuyts W, Nothen MM. Prenatal diagnosis of Pfeiffer syndrome type II. Prenat Diagn. 2004;24(8):644–6.
Delahaye S, Bernard JP, Renier D, Ville Y. Prenatal ultrasound diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol. 2003;21(4):347–53.
Morriss-Kay GM, Wilkie AOM. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat. 2005;207(5):637–53.
Van Vlimmeren LA, Helders PJ, van Adrichem LN, Engelbert RH. Diagnostic strategies for the evaluation of asymmetry in infancy—a review. Euro J Pediatr. 2004;163(4–5):185–91.
Cohen MM Jr. In: Cohen Jr MM, editor. Craniosynostosis: diagnosis, evaluation and management. 2nd ed. New York: Oxford University Press; 2000. p. 112–8.
Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D. Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet. 1995;55(4):500–4.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14(3):150–61. WB Saunders
French L, Ronald I, Jackson T, Joseph MT. A population-based study of craniosynostosis. J Clin Epidemiol. 1990;43(1):69–73.
Alderman BW, Fernbach SK, Greene C, Mangione EJ, Ferguson SW. Diagnostic practice and the estimated prevalence of craniosynostosis in Colorado. Arch Pediatr Adolesc Med. 1997;151(2):159–64.
Blank CE. Apert’s syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases. Ann Hum Genet. 1960;24:151–63.
Cohen MM Jr. In: Cohen Jr MM, editor. Craniosynostosis: diagnosis evaluation, and management. 2nd ed. New York: Oxford University Press; 2000. p. 51–68.
Cohen MM Jr, MacLean RE. In: Cohen Jr MM, editor. Craniosynostosis: diagnosis, evaluation, and management. 2nd ed. New York: Oxford University Press; 2000. p. 119–46.
Cohen MM Jr. In: Cohen Jr MM, editor. Craniosynostosis: diagnosis, evaluation, and management. 2nd ed. New York: Oxford University Press; 2000. p. 3–50.
Boulet SL, Rasmussen SA, Honein MA. A population‐based study of craniosynostosis in metropolitan Atlanta, 1989–2003. Am J Med Genet A. 2008;146(8):984–91.
Kolar JC. An epidemiological study of nonsyndromal craniosynostoses. J Craniofac Surg. 2011;22(1):47–9.
Argenta LC, David LR, Wilson JA, Bell WO. An increase in infant cranial deformity with supine slee** position. J Craniofac Surg. 1996;7:5–11.
Gellad FE, Haney PJ, Sun JC, Robinson WL, Rao KC, et al. Imaging modalities of craniosynostosis with surgical and pathological correlation. Pediatr Radiol. 1985;15(5):285–90.
Kane AA, Mitchell LE, Craven KP, Marsh JF. Observations on a recent increase in plagiocephaly without synostosis. Pediatrics. 1996;89:877–85.
Mc Alister WH. Invited commentary: posterior deformational plagiocephaly. Pediatr Radiol. 1998;28:727–8.
Regelsberger J, Delling G, Tsokos M. High-frequency ultrasound confirmation of positional plagiocephaly. J Neurosurg Pediatr. 2006;105(5):413–7.
Turk AE, McCarthy JG, Thorn CHM, Wissoff JH. The “back to sleep campaign” and deformational plagiocephaly: is there cause for concern? J Craniofac Surg. 1996;7:12–8.
Willinger M, Hoffman JH, Hartford RB. Infant sleep position and risk for sudden infant death syndrome: report of meeting held January 13 and 14, 1994, National Institutes of Health, Bethesda, MD. Pediatrics. 1994;93:814–9.
Jones BM, Hayward R, Evans R, Britto J. Occipital plagiocephaly: an epidemic of craniosynostosis?: Craniosynostosis needs to be distinguished from more common postural asymmetry. BMJ. 1997;315(7110):693–4.
Mulliken JB, Vander Woude DL, Hansen M, LaBrie RA, Scott RM. Analysis of posterior plagiocephaly: deformational versus synostotic. Plast Reconstr Surg. 1999;103:371–80.
Gat I, Hoffmann C, Shashar D, Yosef OB, Konen E, Achiron R, Brandt B, Katorza E. Fetal brain MRI: novel classification and contribution to sonography. Fetal Ultraschall Med. 2016;37(2):176–84.
Haratz KK, Leibovitz Z, Svirsky R, Drummond CL, Lev D, Gindes L, Lerman-Sagie T, Malinger G. The ‘Brain Shadowing Sign’: A Novel Marker of Fetal Craniosynostosis. Fetal Diagn Ther. 2016;40(4):277–84.
Mahieu-Caputo D, Sonigo P, Amiel J, Simon I, Aubry MC, Lemerrer M, Delezoide AL, Gigarel N, Dommergues M, Dumez Y. Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology. Fetal Diagn Ther. 2001;16(1):10–2.
Tonni G, Panteghini M, Rossi A, Baldi M, Magnani C, Ferrari B, Lituania M. Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature. Arch Gynecol Obstet. 2011;283(4):909–16.
Miller C, Losken HW, Towbin R, Bowen A, Mooney MP, Towbin A, et al. Ultrasound diagnosis of craniosynostosis. Cleft Palate-Craniofac J. 2002;39(1):73–80.
Fjortoft MI, Sevely A, Boetto S, Kessler S, Sarramon MF, et al. Prenatal diagnosis of craniosynostosis: value of MR imaging. Neuroradiology. 2007;49(6):515–21.
Rubio EI, Blask A, Bulas DI. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. Pediatr Radiol. 2016;46(5):709–18.
Abrahams JJ, Eklund JA. Diagnostic radiology of the cranial base. Clin Plast Surg. 1995;22(3):373–405.
Cerovac S, Neil-Dwyer JG, Rich P, Jones BM, Hayward RD. Are routine preoperative CT scans necessary in the management of single suture craniosynostosis? Br J Neurosurg. 2002;16(4):348–54.
Medina LS, Richardson RR, Crone K. Children with suspected craniosynostosis: a cost-effectiveness analysis of diagnostic strategies. Am J Roentgenol. 2002;179(1):215–21.
Vannier MW, Hildebolt CF, Marsh JL, Pilgram TK, McAlister WH, Shackelford GD, et al. Craniosynostosis: diagnostic value of three-dimensional CT reconstruction. Radiology. 1989;173(3):669–73.
Pilgram TK, Vannier MW, Hildebolt CF, et al. Craniosynostosis: image quality, confidence, and correctness in diagnosis. Radiology. 1989;173:675–9.
de León GA, de León G, Grover WD, Zaeri N, Alburger PD. Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). Ach Neurol. 1987;44(9):979–82.
Magge KT, Magge SN, Keating RF, Myseros JS, Boyajian MJ, Sauerhammer TM, Rogers GF, Oh AK. Incidental findings on preoperative computed tomography for nonsyndromic single suture craniosynostosis. J Craniofac Surg. 2014;25(4):1327–30.
Agrawal D, Steinbok P, Cochrane DD. Diagnosis of isolated sagittal synostosis: are radiographic studies necessary? Childs Nerv Syst. 2006;22(4):375–8.
Vannier MW, Pilgram TK, Marsh JL, Kraemer BB, Rayne SC, Gado MH, et al. Craniosynostosis: diagnostic imaging with three-dimensional CT presentation. Am J Neuroradiol. Am J Neuroradiol. 1994;15(10):1861–9.
Vannier MW, Pilgram TK, Marsh JL, et al. Craniosynostosis: diagnostic imaging with three-dimensional CT presentation. AJNR. 1994;15:1861–9.
Cote CJ. Sedation for the pediatric patient: a review. Pediatr Clin N Am. 1994;41:31–58.
de Dombal F. Computer-aided diagnosis and decision-making in the acute abdomen. J R Coll Physicians Lond. 1975;9:211–8.
Holzman RS. Morbidity and mortality in pediatric anesthesia. Pediatr Clin N Am. 1994;41:239–56.
Medina LS, Am J. Three-dimensional CT maximum intensity projections of the calvaria: a new approach for diagnosis of craniosynostosis and fractures. Neuroradiology. 2000;21(10):1951–4.
Brenner DJ, Elliston CD, Hall EJ, Berdon WE. Estimated risks of radiation-induced fatal cancer from pediatric CT. Am J Roentgenol. 2001;176(2):289–96.
Didier RA, Kuang AA, Schwartz DL, Selden NR, Stevens DM, Bardo DM. Decreasing the effective radiation dose in pediatric craniofacial CT by changing head position. Pediatr Radiol. 2010;40(12):1910–7.
Kaasalainen T, Palmu K, Lampinen A, Reijonen V, Leikola J, Kivisaari R, Kortesniemi M. Limiting CT radiation dose in children with craniosynostosis: phantom study using model-based iterative reconstruction. Pediatr Radiol. 2015;45(10):1544–53.
Slovis TL. Children, computed tomography radiation dose, and the As Low As Reasonably Achievable (ALARA) concept. Pediatrics. 2003;112:971–2.
Regelsberger J, Delling G, Helmke K, Tsokos M, Kammler G, Kranzlein H, et al. Ultrasound in the Diagnosis of Craniosynostosis. J Craniofac Surg. 2006;17(4):623–5. discussion 626–628
Kotrikova B, Krempien R, Freier K, Mühling J. Diagnostic imaging in the management of craniosynostoses. Eur Radiol. 2007;17(8):1968–78.
Pogliani L, Mameli C, Fabiano V, Zuccotti GV. Positional plagiocephaly: what the pediatrician needs to know. A review. Childs Nerv Syst. 2011;27(11):1867.
Alizadeh H, Najmi N, Mehdizade M, Najmi N. Diagnostic accuracy of ultrasonic examination in suspected craniosynostosis among infants. Indian Pediatr. 2013;50(1):148–50.
Proisy M, Riffaud L, Chouklati K, Tréguier C, Bruneau B. Ultrasonography for the diagnosis of craniosynostosis. Eur J Radiol. 2017;90:250–5.
Hutchison BL, Hutchison LA, Thompson JM, Mitchell EA. Plagiocephaly and brachycephaly in the first two years of life: a prospective cohort study. Pediatrics. 2004;114(4):970–80.
AAP Task Force on Infant Positioning and SIDS Positioning and SIDS. Task force on infant positioning and SIDS. Positioning and SIDS. Pediatrics. 1992;89:1120–6.
Sze RW, Parisi MT, Sidhu M, Paladin AM, Ngo AV, Seidel KD, et al. Ultrasound screening of the lambdoid suture in the child with posterior plagiocephaly. Pediatr Radiol. 2003;33(9):630–6.
Krimmel M, Will B, Wolff M, Kluba S, Haas-Lude K, Schaefer J, Schuhmann MU, Reinert S. Value of high-resolution ultrasound in the differential diagnosis of scaphocephaly and occipital plagiocephaly. Int J Oral Maxillofac Surg. 2012;41(7):797–800.
Eley KA, Watt-Smith SR, Sheerin F, Golding SJ. Black Bone” MRI: a potential alternative to CT with three-dimensional reconstruction of the craniofacial skeleton in the diagnosis of craniosynostosis. Eur Radiol. 2014;24(10):2417–26.
Blaser SI, Padfield N, Chitayat D, Forrest CR. Skull base development and craniosynostosis. Pediatr Radiol. 2015;45(3):485–96.
Tamburrini G, Caldarelli M, Massimi L, Gasparini G, Pelo S, Di Rocco C. Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst. 2012;28(9):1511–23.
Fernbach SK, Feinstein KA. Radiologic evaluation of the child with craniosynostosis. Neurosurg Clin N Am. 1991;2(3):569–85.
Otero HJ, Degnan AJ, Kadom N, Neumann PJ, Lavelle TA. Cost-effectiveness analysis in pediatric imaging: the evidence (or Lack Thereof) thus far. J Am Coll Radiol. 2020;17(4):452–61.
Goldstein SJ, Kidd RC. Value of computed tomography in the evaluation of craniosynostosis. Comput Radiol. 1982;6(6):331–6.
Hayward R, Harkness W, Kendall B, Jones B. Magnetic resonance imaging in the assessment of craniosynostosis. Scand J Plast Reconstr Surg Hand Surg. 1992;26(3):293–9.
Hukki A, Koljonen V, Karppinen A, Valanne L, Leikola J. Brain anomalies in 121 children with non-syndromic single suture craniosynostosis by MR imaging. Eur J Paediatr Neurol. 2012;16(6):671–5.
Lachman R. Taybi and Lachman’s radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5th ed. St. Louis: Mosby; 2006.
Cohen MM Jr, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet. 1990;35:36–45.
Gershoni-Baruch R, Nachlieli T, Guilburd JN. Apert’s syndrome with occipital encephalocele and absence of corpus callosum. Childs Nerv Syst. 1991;7:231–2.
Teebi AS, Kennedy S, Chun K, Ray PN. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet. 2002;107:43–7.
Hall KM, Besachio DA, Moore MD, Mora AJ, Carter WR. Effectiveness of screening for craniosynostosis with ultrasound: a retrospective review. Pediatr Radiol. 2017;47(5):606–12.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Switzerland AG
About this entry
Cite this entry
Alvarado, E., Medina, L.S. (2022). Imaging in the Evaluation of Children with Suspected Craniosynostosis. In: Otero, H.J., Kaplan, S.L., Medina, L.S., Blackmore, C.C., Applegate, K.E. (eds) Evidence-Based Imaging in Pediatrics. Evidence-Based Imaging. Springer, Cham. https://doi.org/10.1007/978-3-030-38095-3_4-1
Download citation
DOI: https://doi.org/10.1007/978-3-030-38095-3_4-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-38095-3
Online ISBN: 978-3-030-38095-3
eBook Packages: Springer Reference MedicineReference Module Medicine