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Craniosynostosis

Last updated: June 5, 2019

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Craniosynostosis (CS) is the premature fusion of one or more cranial sutures. It is caused by a mutation in genes that code for fibroblast growth factor. Most affected infants are asymptomatic; CS is usually recognized based on an abnormal head shape in the first year of life. The shape of the skull is determined by which suture is prematurely fused, of which the sagittal suture (scaphocephaly) is the most commonly affected. When multiple sutures are involved, CS may cause hydrocephalus and/or cerebral constriction. Diagnosis is clinical, with skull x-ray and CT scan helping to assess the extent of fusion. Surgery is recommended in all infants for cosmetic reasons and to treat/prevent intracranial complications.

References:[1][2][3]

Epidemiological data refers to the US, unless otherwise specified.

  • Mutation in genes which encode for the fibroblast growth factor (FGF), FGF receptor, and/or transforming growth factor beta (TGF-β)
  • Altered FGF, FGF receptor, or TGF-β signaling between the dura mater and mesenchyma of the suture → premature fusion of the skull suture(s)

References:[3][4][5]

  • The skull is composed of 5 separate bones: 2 frontal bones, 2 parietal bones, and the occipital bone
  • In a newborn, these bones are separated by patent sutures and fontanelles.
  • Function of patent sutures and fontanelles
    • Allow compression and/or overlapping of the skull bones during childbirth
    • Allow for growth of the brain
  • Premature closure of one or more sutures → craniosynostosis
  • See the article on skull.


References:[3][6]

  • Usually asymptomatic
  • Recognized as an abnormal head shape within the first year of life
Skull deformity due to premature fusion Suture/s involved Features

Scaphocephaly/dolichocephaly

(sagittal synostosis)

  • Most common type of CS (∼ 45%)
  • Long, narrow skull (boat-shaped)

Anterior plagiocephaly

(unilateral coronal synostosis)

  • Unilateral coronal suture
  • 2nd most common type of CS
  • Laterally twisted/oblique skull and face

Posterior plagiocephaly

(unilateral lambdoid synostosis)

  • Unilateral lambdoid suture
  • Rare type of CS
  • Twisted/oblique skull
  • Occipitoparietal flattening on the affected side
  • Low-set ears on the affected side
Trigonocephaly
  • Metopic suture
  • Common type of CS (∼ 25% of cases)
  • Triangular shaped head
  • Prominent occiput and parietal eminences
  • Close-set eyes (hypotelorism)
Brachycephaly
  • Bilateral coronal sutures
  • Short, broad, flattened skull

Oxycephaly

(turricephaly)

  • Bilateral coronal sutures (if left untreated)
  • Long skull (increased craniocaudal dimension)

Kleeblattschädel

(cloverleaf skull)

  • Multiple cranial sutures (esp. the metopic, coronal, and lambdoid sutures)


References:[1][7][8][9][10][11]

  • Mainly a clinical diagnosis
  • Skull x-ray (AP and lateral views): bony suture bridges or lack of suture clarity
  • Cranial CT (with 3D reconstruction)
    • To assess extent of CS
    • To identify hydrocephalus
    • Helps plan surgical reconstruction

References:[1][9]

The following conditions show patency of sutures similar to craniosynostosis on skull x-ray or ultrasound:

References:[10]

The differential diagnoses listed here are not exhaustive.

  • Surgery: indicated in all patients either to minimize cerebral constriction or for cosmetic reasons
    • Strip craniectomy or cranial vault remodeling
    • Timing: controversial; mostly recommended at 3–9 months of age

References:[2][3]

  1. Buchanan EP, Hollier LH. Overview of Craniosynostosis. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/overview-of-craniosynostosis.Last updated: April 11, 2017. Accessed: May 11, 2017.
  2. Kabbani H, Raghuveer TS. Craniosynostosis. Am Fam Physician. 2004; 69 (12): p.2863-2870.
  3. Warren SM, Longaker MT. The Pathogenesis of Craniosynostosis in the Fetus. Yonsei Medical Journal. 2001; 42 (6): p.646-659.
  4. Chim H, Manjila S, Cohen AR, Gosain AK. Molecular signaling in pathogenesis of craniosynostosis: the role of fibroblast growth factor and transforming growth factor–β. Neurosurgical Focus. 2011; 31 (2): p.E7.
  5. Anatomy of the Newborn Skull. http://www.stanfordchildrens.org/en/topic/default?id=anatomy-of-the-newborn-skull-90-P01840. Updated: January 1, 2017. Accessed: May 11, 2017.
  6. Garza RM, Khosla RK. Nonsyndromic craniosynostosis. Semin Plast Surg. 2012; 26 (2): p.53-63. doi: 10.1055/s-0032-1320063 . | Open in Read by QxMD
  7. Manjila S, Chim S, Eisele S, Chowdhry SA, Gosain AK, Cohen AR. History of the Kleeblattschädel deformity: origin of concepts and evolution of management in the past 50 years. Neurosurg Focus. 2010; 29 (6): p.E7. doi: 10.3171/2010.9.FOCUS10212 . | Open in Read by QxMD
  8. Hollier LH. Craniosynostosis syndromes. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/craniosynostosis-syndromes.Last updated: August 18, 2016. Accessed: May 11, 2017.
  9. Johnson D, Wilkie AOM. Craniosynostosis. Eur J Hum Genet. 2011; 19 (4): p.369-376. doi: 10.1038/ejhg.2010.235 . | Open in Read by QxMD
  10. Cloverleaf Skull. https://radiopaedia.org/articles/cloverleaf-skull. Updated: January 1, 2017. Accessed: May 11, 2017.
  11. Esmaeli A, Nejat F, Habibi Z, Khashab ME. Secondary bicoronal synostosis after metopic craniosynostosis surgical reconstruction. J Pediatr Neurosci. 2014; 9 (3): p.242-245. doi: 10.4103/1817-1745.147578 . | Open in Read by QxMD
  12. Koletzko B. Kinder- und Jugendmedizin. Springer Verlag (2007) ; 2007
  13. Kliegman RM, Stanton BF, Geme JS, Schor NF, Behrman RE. Nelson Textbook of pediatrics. Elsevier (2011) ; 2011