eMedicine Specialties > Neurology > Pediatric Neurology

Craniosynostosis: Differential Diagnoses & Workup

Author: Raj D Sheth, MD, Professor of Neurology, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic
Coauthor(s): Philipp R Aldana, MD, FAAP, Assistant Professor of Neurosurgery and Pediatrics, University of Florida College of Medicine - Jacksonville; Director of Clinical Services, Pediatric Neurosurgery Center, University of Florida Health Sciences Center; Bermans J Iskandar, MD, Director, Associate Professor, Departments of Neurological Surgery, Pediatrics, Children's Hospital, University of Wisconsin Hospital and Clinics
Contributor Information and Disclosures

Updated: Nov 12, 2009

Differential Diagnoses

Benign Skull Tumors
Thyroid Disease
Hydrocephalus
Torticollis
Mental Retardation
Neural Tube Defects
Syringomyelia

Other Problems to Be Considered

Apert syndrome
Carpenter syndrome
Chotzen syndrome
Crouzon syndrome
Hypercalcemia
Hyperthyroidism
Hypophosphatemia
Kleeblattschãdel (cloverleaf skull)
Pfeiffer syndrome
Positional molding
Renal osteodystrophy
Rickets
Vitamin D deficiency

Workup

Imaging Studies

  • When careful examination of the cranial shape cannot establish the diagnosis, skull radiographs can be obtained.
  • Perform skull radiography with anterior-posterior, lateral, and Water views. Prematurely fused sutures are easily identified by the absence of sutures and associated ridging of the suture line. Sutures either are not visible or have evidence of sclerosis.
  • Cranial CT scan with 3-dimensional reconstruction is not required in most infants. It is sometimes performed when surgery is being considered.
  • Nuclear medicine isotope studies are of limited value.

Other Tests

Endocrine evaluation: Order thyroid and parathyroid studies when associated features suggest these diagnoses.

More on Craniosynostosis

Overview: Craniosynostosis
Differential Diagnoses & Workup: Craniosynostosis
Treatment & Medication: Craniosynostosis
Follow-up: Craniosynostosis
Multimedia: Craniosynostosis
References
Further Reading

References

  1. Jabs EW. Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet. Feb 1998;53(2):79-86. [Medline].

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

  3. Sheth RD, Schaefer GB, Keller GM, et al. Size of the corpus callosum in cerebral palsy. J Neuroimaging. Jul 1996;6(3):180-3. [Medline].

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

  5. Losee JE, Corde Mason A. Deformational plagiocephaly: diagnosis, prevention, and treatment. Clin Plast Surg. Jan 2005;32(1):53-64. [Medline].

  6. Robin NH. Molecular genetic advances in understanding craniosynostosis. Plast Reconstr Surg. Mar 1999;103(3):1060-70. [Medline].

  7. Anderson PJ, Netherway DJ, Abbott A, David DJ. Intracranial Volume Measurement of Metopic Craniosynostosis. J Craniofac Surg. 11 2004;15(6):1014-1016. [Medline].

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

  9. Dundulis JA, Becker DB, Govier DP, et al. Coronal ring involvement in patients treated for unilateral coronal craniosynostosis. Plast Reconstr Surg. Dec 2004;114(7):1695-703. [Medline].

  10. Elmslie FV, Reardon W. Craniofacial developmental abnormalities. Curr Opin Neurol. Apr 1998;11(2):103-8. [Medline].

  11. Fernbach SK. Craniosynostosis 1998: concepts and controversies. Pediatr Radiol. Sep 1998;28(9):722-8. [Medline].

  12. Liptak GS, Serletti JM. Pediatric approach to craniosynostosis. Pediatr Rev. Oct 1998;19(10):352; quiz 359. [Medline].

  13. Sheth RD, Mullett MD, Bodensteiner JB, Hobbs GR. Longitudinal head growth in developmentally normal preterm infants. Arch Pediatr Adolesc Med. Dec 1995;149(12):1358-61. [Medline].

Further Reading

See Medscape's Pediatrics/Neonatal Care Nursing Resource Center.

Keywords

craniosynostosis, abnormal head shape, ossification, primary craniosynostosis, failure of brain growth, secondary craniosynostosis, simple craniosynostosis, complex craniosynostosis, compound craniosynostosis, syndromic craniosynostosis, anterior plagiocephaly, Apert syndrome, brachycephaly, Carpenter syndrome, Chotzen syndrome, Crouzon syndrome, kleeblattschãdel, cloverleaf skull, oxycephaly, Pfeiffer syndrome, plagiocephaly, scaphocephaly, trigonocephaly

Contributor Information and Disclosures

Author

Raj D Sheth, MD, Professor of Neurology, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic
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, and Child Neurology Society
Disclosure: Nothing to disclose.

Coauthor(s)

Philipp R Aldana, MD, FAAP, Assistant Professor of Neurosurgery and Pediatrics, University of Florida College of Medicine - Jacksonville; Director of Clinical Services, Pediatric Neurosurgery Center, University of Florida Health Sciences Center
Philipp R Aldana, MD, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association of Neurological Surgeons, American Society of Pediatric Neurosurgeons, Children's Oncology Group, Congress of Neurological Surgeons, and International Society of Pediatric Neurosurgery
Disclosure: Nothing to disclose.

Bermans J Iskandar, MD, Director, Associate Professor, Departments of Neurological Surgery, 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 and American College of Surgeons
Disclosure: Nothing to disclose.

Medical Editor

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: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

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, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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