Child's Nervous System

, Volume 30, Issue 1, pp 165–172 | Cite as

The Foramen magnum in isolated and syndromic brachycephaly

  • Federico Di RoccoEmail author
  • Dana Dubravova
  • Jawad Ziyadeh
  • Christian Sainte-Rose
  • Corinne Collet
  • Eric Arnaud
Original Paper



Though the foramen magnum (FM) is often altered in complex craniosynostosis, no study analysed the FM dimensions in patients with brachycephaly specifically.

Patients and methods

We measured the FM area, sagittal and transverse diameters on preoperative CT scans in patients with bicoronal synostosis (n = 40) and age-matched control group (n = 18). Our study included 16 children with FGFR3 p.Pro250Arg mutation (mean age 6.1 months), 10 with TWIST-1 mutation (mean age7.6 months) and 14 patients with isolated bicoronal synostosis (mean age 6.1).


We observed a significantly smaller FM area in FGFR3 group compared to control group and isolated brachycephaly group (p = 0.001 and p = 0.038, respectively). The mean FM area in FGFR3 group was 426.13 mm2 (p = 0.001), while in TWIST-1 group was 476.34 mm2 (p = 0.103), and in isolated brachycephaly group 489.43 mm2 (p = 0.129) compared to control group: 528.90 mm2. The posterior segment of the sagittal diameter of the FM and its width as well as the bi-interoccipital synchondrosis diameters were significantly smaller in FGFR3 group compared to control group. In TWIST-1 group, the only altered dimension was the FM anterior segment of the sagittal diameter (p = 0.008). We did not observe any significant alteration of FM in patients with isolated brachycephaly compared to control group.

Discussion and conclusions

The FM area is significantly altered in FGFR3-related brachycephaly, whereas in patients with Saethre–Chotzen syndrome (TWIST-1 mutation) the mean FM area is similar to control group. This study confirms the importance of FGFRs on FM growth whereas TWIST-1 seems to have a minor role.


Craniosynostosis FGFR Skull base Ossification Craniovertebral junction Coronal suture Occipital bone 


  1. 1.
    Béder I, Horn F, Trnka J, Bielek J, Omaník P (2009) Craniosynostosis. Slovenskáchirurgia 6(2):22–25Google Scholar
  2. 2.
    Coll G, Arnaud E, Selek L, Brunelle F, Sainte-Rose C, Collet C, Di Rocco F (2012) The growth of the foramen magnum in Crouzon syndrome. Childs Nerv Syst 28:1525–1535PubMedCrossRefGoogle Scholar
  3. 3.
    Goodrich JT (2005) Skull base growth in craniosynostoses. Child’s Nerv Syst 21(10):871–879CrossRefGoogle Scholar
  4. 4.
    Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R (1989) Growth of the foramen magnum in achondroplasia. Am J Med Genet 32(4):528–535PubMedCrossRefGoogle Scholar
  5. 5.
    Helms JA, Amasha RR, Leucht P (2007) Bone voyage: an expedition into the molecular and cellular parameters affecting bone graft fate. Bone 41(4):479–485PubMedCrossRefGoogle Scholar
  6. 6.
    Horn F, Béder I, Omaník P, Sýkora P, Trnka J (2009) Craniosynostosis and surgical treatment options. Cesk Pediatr 64(11):603–604Google Scholar
  7. 7.
    Johnson D, Wilkie AO (2011) Craniosynostosis. Eur J Hum Genet 19(4):369–376PubMedCrossRefGoogle Scholar
  8. 8.
    Ozcetin M, Arslan MT, Karapinar B (2012) An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction. Iran J Pediatr 22(1):121–124PubMedCentralPubMedGoogle Scholar
  9. 9.
    Lattanzi W, Bukvic N, Barba M, Tamburrini G, Bernardini C, Michetti F, Di Rocco C (2012) Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications. Child’s Nerv Syst 28:1301–1310CrossRefGoogle Scholar
  10. 10.
    Menezes AH (2008) Craniocervical developmental anatomy and its implications. Child’s NervSyst 24:1109–1122CrossRefGoogle Scholar
  11. 11.
    Pang D, Thompson DN (2011) Embryology and bony formation of the cranioovertebral junction. Child’s Nerv Syst 27(4):523–564CrossRefGoogle Scholar
  12. 12.
    Reina V, Baujat G, Fauroux B, Couloigner V, Boulanger E, Sainte Rose C, Maroteaux P, Le Merrer M, Cormier-Daire V, Legai-Mallet L, Zerah M, Di Rocco F. Cranio vertebral junction anomalies in achondroplastic children. (2013) Advances and Technical Standards in NeurosurgeryGoogle Scholar
  13. 13.
    Richards GD, Jabbour RS (2011) Foramen magnum ontogeny in Homo sapiens: a functional matrix perspective. Anat Rec (Hoboken) 294(2):199–216CrossRefGoogle Scholar
  14. 14.
    Stevenson RE, Hall JG. (2006) Human malformations and related anomalies. Oxford University Press, Oxford, ISBN 0195165683.p.261.Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Federico Di Rocco
    • 1
    • 3
    Email author
  • Dana Dubravova
    • 1
  • Jawad Ziyadeh
    • 1
  • Christian Sainte-Rose
    • 1
  • Corinne Collet
    • 2
  • Eric Arnaud
    • 1
  1. 1.Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, APHPUniversité Paris DescartesParisFrance
  2. 2.Service de Biochimie et Biologie MoléculaireHôpital LariboisièreParisFrance
  3. 3.Craniofacial Unit, Department of Paediatric NeurosurgeryNecker Enfants Malades HospitalParisFrance

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