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Pediatric Craniosynostosis

  • Author: Raj D Sheth, MD; Chief Editor: Amy Kao, MD  more...
 
Updated: Sep 17, 2015
 

Background

Craniosynostosis consists of premature fusion of 1 or more cranial sutures, often resulting in an abnormal head shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Simple craniosynostosis is a term used when only 1 suture fuses prematurely. Complex or compound craniosynostosis is used to describe premature fusion of multiple sutures. When children with craniosynostosis, usually complex, also display other body deformities, this is termed syndromic craniosynostosis.

Also see the Medscape Reference Neurosurgery article Surgery for Craniosynostosis.

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Pathophysiology

Normal skull development

Ossification of the cranial vault starts in the central region of each cranial bone and extends outward toward the cranial sutures.

Diagram of a neonate's skull demonstrating the loc Diagram of a neonate's skull demonstrating the location of the sutures.

See the list below:

  • The coronal suture separates the 2 frontal bones from the parietal bones.
  • The metopic suture separates the frontal bones.
  • The sagittal suture separates the 2 parietal bones.
  • The lambdoid suture separates the occipital bone from the 2 parietal bones.
  • The primary factor that keeps sutures open is ongoing brain growth.
  • Normal skull growth occurs perpendicular to each suture.

Primary craniosynostosis [1]

When 1 or more sutures fuse prematurely, skull growth can be restricted perpendicular to the suture. If multiple sutures fuse while the brain is still increasing in size, intracranial pressure can increase.

  • Scaphocephaly - Early fusion of the sagittal suture
  • Anterior plagiocephaly - Early fusion of 1 coronal suture
  • Brachycephaly - Early bilateral coronal suture fusion
  • Posterior plagiocephaly - Early closure of 1 lambdoid suture
  • Trigonocephaly - Early fusion of the metopic suture
    Frontal view showing a fused and ridged metopic su Frontal view showing a fused and ridged metopic suture on 3-dimensional CT.

Secondary craniosynostosis [1]

More frequent than the primary type, secondary craniosynostosis can result from early fusion of sutures due to primary failure of brain growth. Since brain growth drives the bony plates apart at the sutures, a primary lack of brain growth allows premature fusion of all the sutures.

Skull deformities associated with single suture sy Skull deformities associated with single suture synostosis.
CT image demonstrating features of secondary crani CT image demonstrating features of secondary craniosynostosis with cerebral atrophy. Cerebral atrophy is not present in primary craniosynostosis.

Intracranial pressure is usually normal, and surgery is seldom needed. Typically, failure of brain growth results in microcephaly. Premature suture closure does not compromise brain growth and does not require surgery to open sutures.

Intrauterine space constraints may play a role in the premature fusion of sutures in the fetal skull.[2] This has been demonstrated in coronal craniosynostosis. Other secondary causes of craniosynostosis include systemic disorders that affect bone metabolism such as rickets and hypercalcemia (see Causes).

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Epidemiology

Frequency

United States

Incidence of craniosynostosis is 0.04-0.1%. Of affected individuals, 2-8% have primary craniosynostosis. The remaining cases are secondary craniosynostosis, which frequently is accompanied by microcephaly. The frequencies of the various types of craniosynostosis are as follows: sagittal 50-58%, coronal 20-29%, metopic 4-10%, and lambdoid 2-4%.[3]

Mortality/Morbidity

Raised intracranial pressure is rare with fusion of a single suture. It can occur in primary craniosynostosis when multiple sutures fuse.

  • Primary craniosynostosis: Although the major morbidity is due to the abnormal shape of the skull, intracranial pressure can be elevated. This occurs with a high frequency in multiple suture synostosis and rarely with single suture synostosis.
  • Secondary craniosynostosis: Typically no morbidity is noted, except that related to the underlying disorder. The lack of brain growth often is associated with neurodevelopmental delay. [4, 5]
  • Craniosynostosis of 1-2 sutures: Cosmetic defect is the primary morbidity.

Sex

Craniosynostosis is equally distributed in both boys and girls.

Age

See the list below:

  • Neonatal period: Craniosynostosis is evident at birth when associated with other craniofacial abnormalities.
  • Infancy (0-18 mo): Secondary or primary craniosynostosis becomes evident as the child grows.
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Contributor Information and Disclosures
Author

Raj D Sheth, MD Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine

Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, Child Neurology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Bermans J Iskandar, MD Professor, Director of Pediatric Neurosurgery, Departments of Neurological Surgery and Pediatrics, Children's Hospital, University of Wisconsin Hospital and Clinics

Bermans J Iskandar, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Surgeons

Disclosure: Nothing to disclose.

Saswata Roy, MD Pediatric Otolaryngologist, Director, Facial Anomalies and Cranial Base Program, Division of Pediatric Otolaryngology, Nemours Children's Clinic

Saswata Roy, MD is a member of the following medical societies: American Academy of Facial Plastic and Reconstructive Surgery, American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, American Cleft Palate-Craniofacial Association

Disclosure: Nothing to disclose.

Nathan J Ranalli, MD Assistant Professor of Neurosurgery and Pediatrics, Associate Program Director of Pediatric Maxillofacial and Craniofacial Surgery Fellowship, University of Florida College of Medicine-Jacksonville; Consulting Surgeon, Division of Pediatric Neurological Surgery, Lucy Gooding Pediatric Neurosurgery Center, Wolfson Children’s Hospital

Nathan J Ranalli, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Student Association/Foundation, Congress of Neurological Surgeons

Disclosure: Nothing to disclose.

Philipp Aldana, MD, FAAP Assistant Professor of Neurosurgery and Pediatrics and Chief, Division of Pediatric Neurosurgery, Departments of Neurosurgery and Pediatrics, University of Florida College of Medicine at Jacksonville

Philipp Aldana, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, Congress of Neurological Surgeons, International Society of Pediatric Neurosurgery, American Society of Pediatric Neurosurgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

James J Riviello, Jr, MD George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello, Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Partner received royalty from Up To Date for section editor.

Acknowledgements

Ian M Heger, MD Assistant Professor, Department of Neurosurgery, University of Florida College of Medicine; Assistant Director of Clinical Services, Pediatric Neurosurgery Center, Wolfson Children's Hospital

Ian M Heger, MD, is a member of the following medical societies: American Academy of Pediatrics, American Association of Neurological Surgeons, American College of Surgeons, American Epilepsy Society, American Society of Pediatric Neurosurgeons, Children's Oncology Group, and Congress of Neurological Surgeons

Disclosure: Nothing to disclose.

References
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  2. Higginbottom MC, Jones KL, James HE. Intrauterine constraint and craniosynostosis. Neurosurgery. 1980 Jan. 6(1):39-44. [Medline].

  3. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep. 14(3):150-61. [Medline].

  4. Sheth RD, Schaefer GB, Keller GM, Hobbs GR, Ortiz O, Bodensteiner JB. Size of the corpus callosum in cerebral palsy. J Neuroimaging. 1996 Jul. 6(3):180-3. [Medline].

  5. Schaefer GB, Sheth RD, Bodensteiner JB. Cerebral dysgenesis. An overview. Neurol Clin. 1994 Nov. 12(4):773-88. [Medline].

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  9. Scott JR, Isom CN, Gruss JS, et al. Symptom outcomes following cranial vault expansion for craniosynostosis in children older than 2 years. Plast Reconstr Surg. 2009 Jan. 123(1):289-97; discussion 298-9. [Medline].

  10. Shah MN, Kane AA, Peterson JD, Woo AS, Naidoo SD, Smyth MD. Endoscopically assisted versus open repair of sagittal craniosynostosis: the St. Louis Children’s Hospital experience. J Neurosurg Pediatr. 2011/08. 8(2):165-70.

  11. Jimenez DF, Barone CM. Multiple-suture nonsyndromic craniosynostosis: early and effective management using endoscopic techniques. J Neurosurg Pediatr. 2010 Mar. 5(3):223-31. [Medline].

  12. Keshavarzi S, Hayden MG, Ben-Haim S, Meltzer HS, Cohen SR, Levy ML. Variations of endoscopic and open repair of metopic craniosynostosis. J Craniofac Surg. 2009 Sep. 20(5):1439-44. [Medline].

  13. Oppenheimer AJ, Ranganathan K, Levi B, Strahle JM, Kapurch J, Muraszko KM, et al. Minimizing Transfusions in Primary Cranial Vault Remodeling: The Role of Aminocaproic Acid. J Craniofac Surg. 2013 Nov 14. [Medline].

  14. Ettinger N, Williams M, Phillips JA 3rd. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. J Craniofac Surg. 2013 Sep. 24(5):1829-32. [Medline].

  15. Jeong JH, Song JY, Kwon GY, Baek SH, Kim JC, Choi TH, et al. The results and complications of cranial bone reconstruction in patients with craniosynostosis. J Craniofac Surg. 2013 Jul. 24(4):1162-7. [Medline].

  16. Knight SJ, Anderson VA, Spencer-Smith MM, Da Costa AC. Neurodevelopmental outcomes in infants and children with single-suture craniosynostosis: a systematic review. Dev Neuropsychol. 2014. 39(3):159-86. [Medline].

  17. Maliepaard M, Mathijssen IM, Oosterlaan J, Okkerse JM. Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis. Pediatrics. 2014 Jun. 133(6):e1608-15. [Medline].

  18. Cunningham ML, Heike CL. Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 2007 Dec. 19(6):645-51. [Medline].

  19. Dadure C, Sauter M, Bringuier S, Bigorre M, Raux O, Rochette A. Intraoperative tranexamic acid reduces blood transfusion in children undergoing craniosynostosis surgery: a randomized double-blind study. Anesthesiology. 2011 Apr. 114(4):856-61. [Medline].

  20. Keshavarzi S, Hayden MG, Ben-Haim S, Meltzer HS, Cohen SR, Levy ML. Variations of endoscopic and open repair of metopic craniosynostosis. J Craniofac Surg. 2009 Sep. 20(5):1439-44. [Medline].

  21. Miraoui H, Ringe J, Haupl T, Marie PJ. Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. Hum Mol Genet. 2010 May 1. 19(9):1678-89. [Medline].

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Diagram of a neonate's skull demonstrating the location of the sutures.
Frontal view showing a fused and ridged metopic suture on 3-dimensional CT.
CT image demonstrating features of secondary craniosynostosis with cerebral atrophy. Cerebral atrophy is not present in primary craniosynostosis.
Positional molding. Note the anterior displacement of the right occiput and of the right frontal region on the same side, which differentiate positional molding from posterior plagiocephaly craniosynostosis.
Posterior view of 3-dimensional cranial CT demonstrating early fusion of the lambdoid suture.
Isolated fusion of the metopic suture. Note that the remaining sutures are open.
Trigonocephaly. Note the triangular shape of the head.
Infant with primary craniosynostosis. The specific deformity of the skull is Kleeblattschadel or cloverleaf skull.
Skull deformities associated with single suture synostosis.
Positional plagiocephaly. Note anterior position of the ear on the side with occipital flattening.
Sagittal synostosis and the associated scaphocephaly seen on skull radiograph and 3-dimensional craniofacial CT scan.
Sagittal synostosis before and after cranial vault surgery and the associate improvement of scaphocephaly.
Unilateral coronal deformity with retrusion of the orbit and harlequin eye deformity. Note the ipsilateral deviation of the nasal radix and the contralateral deviation of the nasal tip.
Fusion of coronal sutures bilaterally. Note the increase transverse dimension and retrusion of the orbital rim.
Intraoperative view of bilateral coronal synostosis. Note the decreased anterior-posterior dimension, increased transverse width and retruded orbital rim.
Pre- and postoperative photos of metopic synostosis. Note the prominent forehead keel corrected after surgical repair.
 
 
 
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