Medical Care

In the past 30 years, a better understanding of the pathophysiology and management of craniosynostosis has developed. Currently, surgery is usually for cranial deformity correction for infants with fusion of 1-2 sutures that results in a misshapen head. For infants with microcephaly (ie, secondary craniosynostosis), surgery usually is not required.

In patients with microcephaly, investigate the cause of microcephaly.
Measure head circumference longitudinally and monitor development. Ensure normal brain growth in patients with primary craniosynostosis.
Carefully monitor signs and symptoms of elevated intracranial pressure.
- Examine the fundi and alert parents to report persistent vomiting or lethargy promptly.
- Should elevated intracranial pressure be suspected, an emergent neurosurgical consult would be appropriate.
To preserve visual function in patients with elevated intracranial pressure, an emergent ophthalmological consult would be appropriate.
Address the appearance of the skull abnormality.

Surgical Care

Surgery is typically indicated for increased intracranial pressure or for correction of the cranial deformity.

Surgery is usually performed in the first year of life.

Sagittal synostosis before and after cranial vault surgery and the associate improvement of scaphocephaly.

View Media Gallery

Do not operate in patients without raised intracranial pressure until considering the following:

If the shape of the head does not improve by age 2 months, then the abnormality is unlikely to resolve with age. Early referral is helpful if children can be considered for minimally invasive surgery. Infants have a large head relative to body size. Deformity appears more prominent in the young infant and may be less obvious with age.
Handle minor deformities conservatively. As the child grows and more hair appears, the visible abnormality may decrease.

Consideration for synostosis correction is dependent on the age of presentation and on which sutures have fused prematurely.

Surgery to correct the cranial or craniofacial deformity is performed in infants aged 3-6 months in the author's practice, although a variety of approaches exist among different surgeons.^[10]
Surgery in younger infants may result in a relatively large loss of blood volume. Accordingly, minimally invasive surgical techniques should be considered. One promising area of investigation is the use of intraoperative tranexamic acid (TXA). A randomized double-blind study published in 2011 concluded that patients undergoing surgical correction of craniosynostosis treated with erythropoietin prior to surgery and TXA during the operation sustained lower volumes of blood loss and received less transfused blood at statistically significant rates than did the control patients.^[11]
A prospective review of 89 children younger than 12 months with sagittal craniosynostosis treated with either endoscopically assisted or open repair found reduced operative times, shorter hospital stays, lower rates of blood transfusion, and excellent outcomes for the patients undergoing endoscopically assisted strip craniectomies followed by helmet therapy. Endoscopic procedures are typically reserved for patients younger than 6 months owing to the difficulties associated with the use of such techniques in older patients with thicker bone.^[12]
Endoscopic metopic synostosis repair is less well defined, but some evidence in the literature suggests that minimally invasive endoscopy-assisted techniques and postoperative cranial molding may be used even in the treatment of infants with multiple-suture nonsyndromic craniosynostosis.^[13]
Surgery in infants older than 8 months may be associated with a slowing of skull growth. Thus, the surgical defect may not be covered adequately by bone growth.

Infants with a defined syndrome causing craniosynostosis should be evaluated early for surgery.

Results are best when surgery is performed in infants younger than 6 months.
Patients with associated facial deformities may need a staged surgical approach (performed by a team of multidisciplinary specialists).^{[14, 15, 16]}

Positional molding

No surgery is indicated for posterior plagiocephaly secondary to positional molding.

The vast majority of infants improve with repositioning maneuvers and physical therapy for torticollis.

Some clinicians elect to use molding helmets for severe cases.

Cranial dysmorphology

Often patients present at a later age with nonspecific symptoms of increased intracranial pressure.^[10]

Consultations

A pediatric neurologist should evaluate the cause of the craniosynostosis and differentiate secondary from primary craniosynostosis. The head circumference should be plotted carefully and monitored from birth onward.

A geneticist/dysmorphologist should evaluate for associated syndromes.

A plastic surgeon should evaluate the infant when synostosis is associated with facial deformities.

A neurosurgeon should evaluate a patient with primary craniosynostosis or elevated intracranial pressure.

An endocrinologist should evaluate the patient when appropriate.

Activity

Following surgery, patients may require some restriction in activity under the direction of the treating neurosurgeon to avoid head injury.

Follow-up

Jabs EW. Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet. 1998 Feb. 53(2):79-86. [QxMD MEDLINE Link].
Higginbottom MC, Jones KL, James HE. Intrauterine constraint and craniosynostosis. Neurosurgery. 1980 Jan. 6(1):39-44. [QxMD MEDLINE Link].
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep. 14(3):150-61. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Schaefer GB, Sheth RD, Bodensteiner JB. Cerebral dysgenesis. An overview. Neurol Clin. 1994 Nov. 12(4):773-88. [QxMD MEDLINE Link].
Losee JE, Mason AC. Deformational plagiocephaly: diagnosis, prevention, and treatment. Clin Plast Surg. 2005 Jan. 32(1):53-64, viii. [QxMD MEDLINE Link].
Robin NH. Molecular genetic advances in understanding craniosynostosis. Plast Reconstr Surg. 1999 Mar. 103(3):1060-70. [QxMD MEDLINE Link].
Liu B, Yu HM, Hsu W. Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation. Dev Biol. 2007 Jan 1. 301(1):298-308. [QxMD MEDLINE Link]. [Full Text].
Kim HJ, Roh HG, Lee IW. Craniosynostosis: updates in radiologic diagnosis. J Korean Neurosurg Soc. 2016. 59(3):219-226. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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.
Jimenez DF, Barone CM. Multiple-suture nonsyndromic craniosynostosis: early and effective management using endoscopic techniques. J Neurosurg Pediatr. 2010 Mar. 5(3):223-31. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Cunningham ML, Heike CL. Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 2007 Dec. 19(6):645-51. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Sheth RD, Mullett MD, Bodensteiner JB, Hobbs GR. Longitudinal head growth in developmentally normal preterm infants. Arch Pediatr Adolesc Med. 1995 Dec. 149(12):1358-61. [QxMD MEDLINE Link].
Stelnicki E, Heger I, Brooks CJ, et al. Endoscopic release of unicoronal craniosynostosis. J Craniofac Surg. 2009 Jan. 20(1):93-7. [QxMD MEDLINE Link].

Media Gallery

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.

of 16

Author

Raj D Sheth, MD Chief, Division of Pediatric Neurology, Nemours Children's Clinic; Professor of Neurology, Mayo Clinic Alix School 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)

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.

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.

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.

Chief Editor

George I Jallo, MD Professor of Neurosurgery, Pediatrics, and Oncology, Director, Clinical Pediatric Neurosurgery, Department of Neurosurgery, Johns Hopkins University School of Medicine

George I Jallo, MD is a member of the following medical societies: American Association of Neurological Surgeons, American Medical Association, American Society of Pediatric Neurosurgeons

Disclosure: Nothing to disclose.

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.