Overview of craniosynostosis
- Edward P Buchanan, MD
Edward P Buchanan, MD
- Assistant Professor
- Baylor College of Medicine
- Larry H Hollier, Jr, MD
Larry H Hollier, Jr, MD
- Baylor College of Medicine
- Section Editors
- Leonard E Weisman, MD
Leonard E Weisman, MD
- Section Editor — Neonatology
- Professor of Pediatrics
- Baylor College of Medicine
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
Interruption of normal embryologic craniofacial differentiation can produce a wide variety of craniofacial abnormalities. Many of the more profound craniofacial deformities occur secondary to craniosynostosis or premature fusion of one or more cranial sutures. Reconstruction of craniofacial structure is typically required when physical or mental well-being becomes affected.
The pathogenesis, diagnosis, and surgical management of craniosynostosis are reviewed here. Specific syndromes associated with craniofacial abnormalities are discussed separately. (See "Craniosynostosis syndromes" and "Syndromes with craniofacial abnormalities".)
The newborn infant's skull is composed of bony plates separated by sutures. This arrangement accommodates transient skull distortion during birth and permits future growth of the brain, the volume of which quadruples during the first two years of life. There are four major sutures: the metopic, coronal, sagittal, and lambdoid. Three additional sutures that contribute to calvarial development are considered minor: the frontonasal, temporosquamosal, and frontosphenoidal. The sagittal, coronal, and metopic sutures meet at the anterior of the skull to form the anterior fontanelle, palpable just behind the forehead at the midline. The posterior fontanelle is formed by the intersection of the sagittal and lambdoid sutures (figure 1).
The osseous cranial base is embryologically derived from a cartilaginous framework (endochondral bone) that undergoes a proliferative growth pattern. In contrast, the calvarium consists of membranous bone, which has no cartilaginous phase. The calvarium grows by depositing new bone along suture lines in response to the distending forces of the rapidly growing brain. During the first two years after birth, the brain increases in size to 75 percent of its adult volume (figure 2). The remaining 25 percent of growth occurs during the next 18 years.
Fontanelle and suture closure occurs in a specific pattern (table 1 and table 2). At two months of age, the posterior fontanelle closes, followed by anterior fontanelle closure at approximately two years. The anterolateral and posterolateral fontanelles close at three months and one year, respectively. While the metopic suture typically closes at two years of age, all remaining patent sutures close in adulthood following completion of craniofacial growth.
- Slater BJ, Lenton KA, Kwan MD, et al. Cranial sutures: a brief review. Plast Reconstr Surg 2008; 121:170e.
- Virchow R. Uber den Cretinismus, namentlich in Franken, und uber pathologische Schadelformen. Verhandl Phys-Med Gessellschr Wurzburg, 1851; 2:241.
- Shillito J Jr, Matson DD. Craniosynostosis: a review of 519 surgical patients. Pediatrics 1968; 41:829.
- Hehr U, Muenke M. Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab 1999; 68:139.
- MOSS ML. The pathogenesis of premature cranial synostosis in man. Acta Anat (Basel) 1959; 37:351.
- Fragale A, Tartaglia M, Bernardini S, et al. Decreased proliferation and altered differentiation in osteoblasts from genetically and clinically distinct craniosynostotic disorders. Am J Pathol 1999; 154:1465.
- Cohen MM Jr. Etiopathogenesis of craniosynostosis. Neurosurg Clin N Am 1991; 2:507.
- Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet 2011; 19:369.
- Lorenz HP, Hedrick MH, Chang J, et al. The impact of biomolecular medicine and tissue engineering on plastic surgery in the 21st century. Plast Reconstr Surg 2000; 105:2467.
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000; 21:23.
- Mulliken JB, Steinberger D, Kunze S, Müller U. Molecular diagnosis of bilateral coronal synostosis. Plast Reconstr Surg 1999; 104:1603.
- Wilkie AO, Byren JC, Hurst JA, et al. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. Pediatrics 2010; 126:e391.
- Fearon JA, McLaughlin EB, Kolar JC. Sagittal craniosynostosis: surgical outcomes and long-term growth. Plast Reconstr Surg 2006; 117:532.
- Greenberg BM, Schneider SJ. Trigonocephaly: surgical considerations and long term evaluation. J Craniofac Surg 2006; 17:528.
- Marsh JL, Vannier MW. Comprehensive Care for Craniofacial Deformities, Mosby, St. Louis 1985.
- Bristol RE, Krieger MD, McComb JG. Normally shaped heads with no sutures, normally shaped heads with abnormal sutures, and abnormally shaped heads with normal sutures. J Craniofac Surg 2011; 22:173.
- Hoffman WY, McCarthy JG, Cutting CB, Zide BM. Computerized tomographic analysis of orbital hypertelorism repair: spatial relationship of the globe and the bony orbit. Ann Plast Surg 1990; 25:124.
- Abramson DL, Janecka IP, Mulliken JB. Abnormalities of the cranial base in synostotic frontal plagiocephaly. J Craniofac Surg 1996; 7:426.
- Glat PM, Freund RM, Spector JA, et al. A classification of plagiocephaly utilizing a three-dimensional computer analysis of cranial base landmarks. Ann Plast Surg 1996; 36:469.
- Badve CA, K MM, Iyer RS, et al. Craniosynostosis: imaging review and primer on computed tomography. Pediatr Radiol 2013; 43:728.
- Altobelli DE, Kikinis R, Mulliken JB, et al. Computer-assisted three-dimensional planning in craniofacial surgery. Plast Reconstr Surg 1993; 92:576.
- Cutting C, Dean D, Bookstein FL, et al. A three-dimensional smooth surface analysis of untreated Crouzon's syndrome in the adult. J Craniofac Surg 1995; 6:444.
- Udupa JK, Tian J, Hemmy DC, Tessier P. A Pentium personal computer-based craniofacial three-dimensional imaging and analysis system. J Craniofac Surg 1997; 8:333.
- Gault D, Brunelle F, Renier D, Marchac D. The calculation of intracranial volume using CT scans. Childs Nerv Syst 1988; 4:271.
- Gault DT, Renier D, Marchac D, et al. Intracranial volume in children with craniosynostosis. J Craniofac Surg 1990; 1:1.
- Rozovsky K, Udjus K, Wilson N, et al. Cranial Ultrasound as a First-Line Imaging Examination for Craniosynostosis. Pediatrics 2016; 137:e20152230.
- Tartaglia M, Bordoni V, Velardi F, et al. Fibroblast growth factor receptor mutational screening in newborns affected by metopic synostosis. Childs Nerv Syst 1999; 15:389.
- Laughlin J, Luerssen TG, Dias MS, Committee on Practice and Ambulatory Medicine, Section on Neurological Surgery. Prevention and management of positional skull deformities in infants. Pediatrics 2011; 128:1236.
- Turk AE, McCarthy JG, Thorne CH, Wisoff JH. The "back to sleep campaign" and deformational plagiocephaly: is there cause for concern? J Craniofac Surg 1996; 7:12.
- Hutchison BL, Hutchison LA, Thompson JM, Mitchell EA. Plagiocephaly and brachycephaly in the first two years of life: a prospective cohort study. Pediatrics 2004; 114:970.
- Mawji A, Vollman AR, Hatfield J, et al. The incidence of positional plagiocephaly: a cohort study. Pediatrics 2013; 132:298.
- Guidelines for the Management of Patients With Positional Plagiocephaly. https://www.cns.org/guidelines/guidelines-management-patients-positional-plagiocephaly.
- Peitsch WK, Keefer CH, LaBrie RA, Mulliken JB. Incidence of cranial asymmetry in healthy newborns. Pediatrics 2002; 110:e72.
- Martiniuk AL, Vujovich-Dunn C, Park M, et al. Plagiocephaly and Developmental Delay: A Systematic Review. J Dev Behav Pediatr 2017; 38:67.
- Kelly KM, Littlefield TR, Pomatto JK, et al. Importance of early recognition and treatment of deformational plagiocephaly with orthotic cranioplasty. Cleft Palate Craniofac J 1999; 36:127.
- Mulliken JB, Vander Woude DL, Hansen M, et al. Analysis of posterior plagiocephaly: deformational versus synostotic. Plast Reconstr Surg 1999; 103:371.
- Kadom N, Sze RW. Radiological reasoning: a child with posterior plagiocephaly. AJR Am J Roentgenol 2010; 194:WS5.
- Linz C, Collmann H, Meyer-Marcotty P, et al. Occipital plagiocephaly: unilateral lambdoid synostosis versus positional plagiocephaly. Arch Dis Child 2015; 100:152.
- Saeed NR, Wall SA, Dhariwal DK. Management of positional plagiocephaly. Arch Dis Child 2008; 93:82.
- Littlefield TR, Beals SP, Manwaring KH, et al. Treatment of craniofacial asymmetry with dynamic orthotic cranioplasty. J Craniofac Surg 1998; 9:11.
- Singh A, Wacogne I. What is the role of helmet therapy in positional plagiocephaly? Arch Dis Child 2008; 93:807.
- Baird LC, Klimo P Jr, Flannery AM, et al. Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline for the Management of Patients With Positional Plagiocephaly: The Role of Physical Therapy. Neurosurgery 2016; 79:E630.
- Flannery AM, Tamber MS, Mazzola C, et al. Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for the Management of Patients With Positional Plagiocephaly: Executive Summary. Neurosurgery 2016; 79:623.
- Mazzola C, Baird LC, Bauer DF, et al. Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline for the Diagnosis of Patients With Positional Plagiocephaly: The Role of Imaging. Neurosurgery 2016; 79:E625.
- Klimo P Jr, Lingo PR, Baird LC, et al. Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Management of Patients With Positional Plagiocephaly: The Role of Repositioning. Neurosurgery 2016; 79:E627.
- Tamber MS, Nikas D, Beier A, et al. Congress of Neurological Surgeons Systematic Review and Evidence-Based Guideline on the Role of Cranial Molding Orthosis (Helmet) Therapy for Patients With Positional Plagiocephaly. Neurosurgery 2016; 79:E632.
- Hollier L, Kim J, Grayson BH, McCarthy JG. Congenital muscular torticollis and the associated craniofacial changes. Plast Reconstr Surg 2000; 105:827.
- Cohen MM Jr. Perspectives on craniofacial asymmetry. III. Common and/or well-known causes of asymmetry. Int J Oral Maxillofac Surg 1995; 24:127.
- Mouradian WE. Controversies in the diagnosis and management of craniosynostosis: a panel discussion. Cleft Palate Craniofac J 1998; 35:190.
- Czerwinski M, Kolar JC, Fearon JA. Complex craniosynostosis. Plast Reconstr Surg 2011; 128:955.
- Tamburrini G, Caldarelli M, Massimi L, et al. Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review. Childs Nerv Syst 2005; 21:913.
- Eide PK, Helseth E, Due-Tønnessen B, Lundar T. Assessment of continuous intracranial pressure recordings in childhood craniosynostosis. Pediatr Neurosurg 2002; 37:310.
- Fok H, Jones BM, Gault DG, et al. Relationship between intracranial pressure and intracranial volume in craniosynostosis. Br J Plast Surg 1992; 45:394.
- Gault DT, Renier D, Marchac D, Jones BM. Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 1992; 90:377.
- Becker DB, Petersen JD, Kane AA, et al. Speech, cognitive, and behavioral outcomes in nonsyndromic craniosynostosis. Plast Reconstr Surg 2005; 116:400.
- Speltz ML, Kapp-Simon KA, Cunningham M, et al. Single-suture craniosynostosis: a review of neurobehavioral research and theory. J Pediatr Psychol 2004; 29:651.
- Kapp-Simon KA, Speltz ML, Cunningham ML, et al. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst 2007; 23:269.
- Starr JR, Collett BR, Gaither R, et al. Multicenter study of neurodevelopment in 3-year-old children with and without single-suture craniosynostosis. Arch Pediatr Adolesc Med 2012; 166:536.
- Chieffo D, Tamburrini G, Massimi L, et al. Long-term neuropsychological development in single-suture craniosynostosis treated early. J Neurosurg Pediatr 2010; 5:232.
- Cohen SR, Cho DC, Nichols SL, et al. American society of maxillofacial surgeons outcome study: preoperative and postoperative neurodevelopmental findings in single-suture craniosynostosis. Plast Reconstr Surg 2004; 114:841.
- Parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial anomalies. American Cleft Palate-Craniofacial Association. March, 1993. Cleft Palate Craniofac J 1993; 30 Suppl:S1.
- Stal S, Chebret L, McElroy C. The team approach in the management of congenital and acquired deformities. Clin Plast Surg 1998; 25:485.
- Ursitti F, Fadda T, Papetti L, et al. Evaluation and management of nonsyndromic craniosynostosis. Acta Paediatr 2011; 100:1185.
- Lefebvre A, Travis F, Arndt EM, Munro IR. A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome. Br J Plast Surg 1986; 39:510.
- Phillips J, Whitaker LA. The social effects of craniofacial deformity and its correction. Cleft Palate J 1979; 16:7.
- Lefebvre A, Munro I. The role of psychiatry in a craniofacial team. Plast Reconstr Surg 1978; 61:564.
- Stal S, Peterson R, Spira M. Aesthetic considerations and the pediatric population. Clin Plast Surg 1990; 17:133.
- Marchac D, Renier D. Craniofacial surgery for craniosynostosis, Little, Brown & Company, Boston 1982.
- Marchac D, Renier D. Craniofacial surgery for craniosynostosis improves facial growth: a personal case review. Ann Plast Surg 1985; 14:43.
- Tessier P, Guiot G, Rougerie J, et al. [Cranio-naso-orbito-facial osteotomies. Hypertelorism]. Ann Chir Plast 1967; 12:103.
- Marmulla R, Niederdellmann H. Computer-assisted bone segment navigation. J Craniomaxillofac Surg 1998; 26:347.
- Marmulla R, Niederdellmann H. Surgical planning of computer-assisted repositioning osteotomies. Plast Reconstr Surg 1999; 104:938.
- Emmez H, Küçüködük I, Börcek AO, et al. Effectiveness of skull models and surgical simulation: comparison of outcome between different surgical techniques in patients with isolated brachycephaly. Childs Nerv Syst 2009; 25:1605.
- Gateño J, Teichgraeber JF, Aguilar E. Computer planning for distraction osteogenesis. Plast Reconstr Surg 2000; 105:873.
- Shah MN, Kane AA, Petersen JD, et al. Endoscopically assisted versus open repair of sagittal craniosynostosis: the St. Louis Children's Hospital experience. J Neurosurg Pediatr 2011; 8:165.
- Adamo MA, Pollack IF. Current management of craniosynostosis. Neurosurgery Quarterly. 2009; 19:82.
- Bottero L, Lajeunie E, Arnaud E, et al. Functional outcome after surgery for trigonocephaly. Plast Reconstr Surg 1998; 102:952.
- Goh KY, Ahuja A, Fok TF, Poon WS. Cloverleaf skull--when should one operate? Singapore Med J 1997; 38:217.
- Jarrahy R, Kawamoto HK, Keagle J, et al. Three tenets for staged correction of Kleeblattschädel or cloverleaf skull deformity. Plast Reconstr Surg 2009; 123:310.
- Ghali GE, Sinn DP, Tantipasawasin S. Management of nonsyndromic craniosynostosis. Atlas Oral Maxillofac Surg Clin North Am 2002; 10:1.
- Teichgraeber JF, Ault JK, Baumgartner J, et al. Deformational posterior plagiocephaly: diagnosis and treatment. Cleft Palate Craniofac J 2002; 39:582.
- Foster KA, Frim DM, McKinnon M. Recurrence of synostosis following surgical repair of craniosynostosis. Plast Reconstr Surg 2008; 121:70e.
- CRANIAL ANATOMY
- CATEGORIZATION OF CRANIAL DEFORMITIES
- Other deformities
- Computed tomography
- DIFFERENTIAL DIAGNOSIS OF FACIAL ASYMMETRY
- Positional flattening (positional plagiocephaly)
- Congenital torticollis
- Other causes of facial asymmetry
- Increased intracranial pressure
- SURGICAL APPROACH
- Surgical planning
- - Scaphocephaly
- - Plagiocephaly
- - Trigonocephaly
- - Kleeblattschädel
- Surgical complications