Childs Nerv Syst DOI 10.1007/s00381-015-2708-4
LETTER TO THE EDITOR
Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly: letter to the editor Guillaume Coll 1,2,3,4 & Federico Di Rocco 1
Received: 29 March 2015 / Accepted: 8 April 2015 # Springer-Verlag Berlin Heidelberg 2015
Dear Editor, It is with great interest that we read the paper entitled BMorphology of the foramen magnum in syndromic and non-syndromic brachycephaly^ by Assadsangabi et al.[1]. The authors studied the shape and size of the foramen magnum in syndromic craniosynostosis including Apert, Crouzon, and Pfeiffer syndromes. Using the same methodology we applied in a previous paper [2], that is (i) non-parametric comparison, (ii) transverse and anteroposterior diameter analysis, (iii) LOESS regression curve, the authors found that patients with Crouzon syndrome and Pfeiffer syndrome have a smaller area of the foramen magnum than control subjects. Conversely, patients with non-syndromic synostosis have a foramen magnum similar to controls. Unfortunately, it is not clear whether all the children included in their study were classified according to a genetic confirmation of the syndromes as the authors only mention that Bpatients with a clinical and/or genetic diagnosis of Crouzon, Pfeiffer, Apert and SaethreChotzen^ were studied. Including only patients with * Guillaume Coll [email protected] 1
Unité de Chirurgie Crâniofaciale, Service de Neurochirurgie Pédiatrique, Centre de Référence National des Dysostoses Crâniofaciales, Hôpital Necker-Enfants Malades, APHP, Paris, France
2
Service de Neurochirurgie, CHU de Clermont-Ferrand, Hôpital Gabriel Montpied, 58 rue Montalembert, 63003 ClermontFerrand, France
3
Laboratoire d’anatomie, UFR Médecine, Université d’Auvergne, Clermont-Ferrand, France
4
Image-Guided Clinical Neuroscience and Connectomics, EA 7282, UFR Médecine, Université Clermont 1, Université d’Auvergne, Clermont-Ferrand, France
genetically confirmed syndromes is a strong argument for the homogeneity of the population and allows a comparison with published series [2–5]. This is of critical importance in the so-called non-syndromic cases in which a Pro250Arg mutation in FGFR3 or a TCF12 mutation could be missed clinically [6]. Indeed, in a previous study, we found that patients with bicoronal synostosis and FGFR3 mutation actually have a smaller foramen compared to controls [5]. Moreover, it is unfortunately not specified in the paper the percentage of hydrocephalic patients nor the number of patients who received a ventriculoperitoneal cerebrospinal fluid shunt or any other procedure for the management of CSF circulation disorders. It is well recognized in the medical literature that the placement of a ventriculoperitoneal shunt may induce a secondary craniosynostosis or aggravate a preexisting one [7–13]. Hydrocephalus is common in these children. In the literature, several studies have found hydrocephalus in 9 to 17 % of patients with Crouzon syndrome, 28 to 64 % of patients with Pfeiffer syndrome, and 4 to 7 % of patients with Apert syndrome [3, 14–21]. The presence of hydrocephalus is also important in regard to the size of the foramen magnum [2, 3]. In a similar study in genetically confirmed FGFR2-related faciocraniosynostosis (31 children under 2 years of age before any surgical procedure, 14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome), we found in fact that hydrocephalus was statistically associated with a small foramen magnum area in Crouzon and Pfeiffer syndromes but not in Apert syndrome [3]. Finally, the disparity found in the ages of the children studied in the article also represents a limitation. The use of age groups would have overcome the bias related to the growth of the skull base found in the pediatric population [3]. It is nevertheless interesting that the results of this study corroborate those of the literature, thus adding some confirmation that the skull base growth is deeply altered in complex synostosis.
Childs Nerv Syst
References Assadsangabi R, Hajmomenian M, Bilaniuk LT, Vossough A (2015) Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. doi:10.1007/ s00381-015-2639-0 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 28:1525–1535. doi:10.1007/s00381012-1805-x 3. Coll G, Arnaud E, Collet C, Brunelle F, Sainte-Rose C, Di Rocco F (2015) Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis. Neurosurgery. doi:10.1227/NEU.0000000000000676 4. Rijken BFM, Lequin MH, de Rooi JJ, van Veelen M-LC, Mathijssen IMJ (2013) Foramen magnum size and involvement of its intraoccipital synchondroses in Crouzon syndrome. Plast Reconstr Surg 132:993e–1000e. doi:10.1097/PRS. 0b013e3182a8077e 5. Di Rocco F, Dubravova D, Ziyadeh J, Sainte-Rose C, Collet C, Arnaud E (2014) The foramen magnum in isolated and syndromic brachycephaly. Childs Nerv Syst 30:165–172. doi:10.1007/s00381013-2245-y 6. Di Rocco F, Baujat G, Arnaud E, Rénier D, Laplanche J-L, Daire VC, Collet C (2014) Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. Eur J Hum Genet 22:1413–1416. doi:10.1038/ejhg.2014.57 7. Doorenbosch X, Molloy CJ, David DJ, Santoreneos S, Anderson PJ (2009) Management of cranial deformity following ventricular shunting. Childs Nerv Syst 25:871–874. doi:10.1007/s00381-0090842-6 8. Faulhauer K, Schmitz P (1978) Overdrainage phenomena in shunt treated hydrocephalus. Acta Neurochir (Wien) 45:89–101 9. Kloss JL (1968) Craniosynostosis secondary to ventriculoatrial shunt. Am J Dis Child 116:315–317
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Martínez-Lage JF, Ruiz-Espejo Vilar A, Pérez-Espejo MA, Almagro M-J, de San R, Pedro J, Felipe Murcia M (2006) Shuntrelated craniocerebral disproportion: treatment with cranial vault expanding procedures. Neurosurg Rev 29:229–235. doi:10.1007/ s10143-006-0022-z Pudenz RH, Foltz EL (1991) Hydrocephalus: overdrainage by ventricular shunts. A review and recommendations. Surg Neurol 35: 200–212 Roberts JR, Rickham PP (1970) Craniostenosis following Holter valve operation. Dev Med Child Neurol 22(Suppl 22):145+ Schendel SA, Shuer LM (1994) Multiple-suture synostosis subsequent to ventricular shunting. Plast Reconstr Surg 93:1073–1077 Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D (1998) Hydrocephalus and craniosynostosis. J Neurosurg 88:209–214. doi:10.3171/jns.1998.88.2.0209 Collmann H, Sörensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21:902–912. doi:10. 1007/s00381-004-1116-y Hanieh A, David DJ (1993) Apert’s syndrome. Childs Nerv Syst 9: 289–291 Moore MH, Hanieh A (1994) Hydrocephalus in pfeiffer syndrome. J Clin Neurosci 1:202–204 Murovic JA, Posnick JC, Drake JM, Humphreys RP, Hoffman HJ, Hendricks EB (1993) Hydrocephalus in Apert syndrome: a retrospective review. Pediatr Neurosurg 19:151–155 Noetzel MJ, Marsh JL, Palkes H, Gado M (1985) Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 107:885–892 Proudman TW, Clark BE, Moore MH, Abbott AH, David DJ (1995) Central nervous system imaging in Crouzon’s syndrome. J Craniofac Surg 6:401–405 Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D (1996) Prognosis for mental function in Apert’s syndrome. J Neurosurg 85:66–72. doi:10.3171/jns.1996.85.1.0066
LETTER TO THE EDITOR
Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly: letter to the editor Guillaume Coll 1,2,3,4 & Federico Di Rocco 1
Received: 29 March 2015 / Accepted: 8 April 2015 # Springer-Verlag Berlin Heidelberg 2015
Dear Editor, It is with great interest that we read the paper entitled BMorphology of the foramen magnum in syndromic and non-syndromic brachycephaly^ by Assadsangabi et al.[1]. The authors studied the shape and size of the foramen magnum in syndromic craniosynostosis including Apert, Crouzon, and Pfeiffer syndromes. Using the same methodology we applied in a previous paper [2], that is (i) non-parametric comparison, (ii) transverse and anteroposterior diameter analysis, (iii) LOESS regression curve, the authors found that patients with Crouzon syndrome and Pfeiffer syndrome have a smaller area of the foramen magnum than control subjects. Conversely, patients with non-syndromic synostosis have a foramen magnum similar to controls. Unfortunately, it is not clear whether all the children included in their study were classified according to a genetic confirmation of the syndromes as the authors only mention that Bpatients with a clinical and/or genetic diagnosis of Crouzon, Pfeiffer, Apert and SaethreChotzen^ were studied. Including only patients with * Guillaume Coll [email protected] 1
Unité de Chirurgie Crâniofaciale, Service de Neurochirurgie Pédiatrique, Centre de Référence National des Dysostoses Crâniofaciales, Hôpital Necker-Enfants Malades, APHP, Paris, France
2
Service de Neurochirurgie, CHU de Clermont-Ferrand, Hôpital Gabriel Montpied, 58 rue Montalembert, 63003 ClermontFerrand, France
3
Laboratoire d’anatomie, UFR Médecine, Université d’Auvergne, Clermont-Ferrand, France
4
Image-Guided Clinical Neuroscience and Connectomics, EA 7282, UFR Médecine, Université Clermont 1, Université d’Auvergne, Clermont-Ferrand, France
genetically confirmed syndromes is a strong argument for the homogeneity of the population and allows a comparison with published series [2–5]. This is of critical importance in the so-called non-syndromic cases in which a Pro250Arg mutation in FGFR3 or a TCF12 mutation could be missed clinically [6]. Indeed, in a previous study, we found that patients with bicoronal synostosis and FGFR3 mutation actually have a smaller foramen compared to controls [5]. Moreover, it is unfortunately not specified in the paper the percentage of hydrocephalic patients nor the number of patients who received a ventriculoperitoneal cerebrospinal fluid shunt or any other procedure for the management of CSF circulation disorders. It is well recognized in the medical literature that the placement of a ventriculoperitoneal shunt may induce a secondary craniosynostosis or aggravate a preexisting one [7–13]. Hydrocephalus is common in these children. In the literature, several studies have found hydrocephalus in 9 to 17 % of patients with Crouzon syndrome, 28 to 64 % of patients with Pfeiffer syndrome, and 4 to 7 % of patients with Apert syndrome [3, 14–21]. The presence of hydrocephalus is also important in regard to the size of the foramen magnum [2, 3]. In a similar study in genetically confirmed FGFR2-related faciocraniosynostosis (31 children under 2 years of age before any surgical procedure, 14 with Crouzon syndrome, 11 with Apert syndrome, and 6 with Pfeiffer syndrome), we found in fact that hydrocephalus was statistically associated with a small foramen magnum area in Crouzon and Pfeiffer syndromes but not in Apert syndrome [3]. Finally, the disparity found in the ages of the children studied in the article also represents a limitation. The use of age groups would have overcome the bias related to the growth of the skull base found in the pediatric population [3]. It is nevertheless interesting that the results of this study corroborate those of the literature, thus adding some confirmation that the skull base growth is deeply altered in complex synostosis.
Childs Nerv Syst
References Assadsangabi R, Hajmomenian M, Bilaniuk LT, Vossough A (2015) Morphology of the foramen magnum in syndromic and non-syndromic brachycephaly. Childs Nerv Syst. doi:10.1007/ s00381-015-2639-0 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 28:1525–1535. doi:10.1007/s00381012-1805-x 3. Coll G, Arnaud E, Collet C, Brunelle F, Sainte-Rose C, Di Rocco F (2015) Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis. Neurosurgery. doi:10.1227/NEU.0000000000000676 4. Rijken BFM, Lequin MH, de Rooi JJ, van Veelen M-LC, Mathijssen IMJ (2013) Foramen magnum size and involvement of its intraoccipital synchondroses in Crouzon syndrome. Plast Reconstr Surg 132:993e–1000e. doi:10.1097/PRS. 0b013e3182a8077e 5. Di Rocco F, Dubravova D, Ziyadeh J, Sainte-Rose C, Collet C, Arnaud E (2014) The foramen magnum in isolated and syndromic brachycephaly. Childs Nerv Syst 30:165–172. doi:10.1007/s00381013-2245-y 6. Di Rocco F, Baujat G, Arnaud E, Rénier D, Laplanche J-L, Daire VC, Collet C (2014) Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations. Eur J Hum Genet 22:1413–1416. doi:10.1038/ejhg.2014.57 7. Doorenbosch X, Molloy CJ, David DJ, Santoreneos S, Anderson PJ (2009) Management of cranial deformity following ventricular shunting. Childs Nerv Syst 25:871–874. doi:10.1007/s00381-0090842-6 8. Faulhauer K, Schmitz P (1978) Overdrainage phenomena in shunt treated hydrocephalus. Acta Neurochir (Wien) 45:89–101 9. Kloss JL (1968) Craniosynostosis secondary to ventriculoatrial shunt. Am J Dis Child 116:315–317
10.
1.
11.
12. 13. 14.
15.
16. 17. 18.
19. 20.
21.
Martínez-Lage JF, Ruiz-Espejo Vilar A, Pérez-Espejo MA, Almagro M-J, de San R, Pedro J, Felipe Murcia M (2006) Shuntrelated craniocerebral disproportion: treatment with cranial vault expanding procedures. Neurosurg Rev 29:229–235. doi:10.1007/ s10143-006-0022-z Pudenz RH, Foltz EL (1991) Hydrocephalus: overdrainage by ventricular shunts. A review and recommendations. Surg Neurol 35: 200–212 Roberts JR, Rickham PP (1970) Craniostenosis following Holter valve operation. Dev Med Child Neurol 22(Suppl 22):145+ Schendel SA, Shuer LM (1994) Multiple-suture synostosis subsequent to ventricular shunting. Plast Reconstr Surg 93:1073–1077 Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D (1998) Hydrocephalus and craniosynostosis. J Neurosurg 88:209–214. doi:10.3171/jns.1998.88.2.0209 Collmann H, Sörensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21:902–912. doi:10. 1007/s00381-004-1116-y Hanieh A, David DJ (1993) Apert’s syndrome. Childs Nerv Syst 9: 289–291 Moore MH, Hanieh A (1994) Hydrocephalus in pfeiffer syndrome. J Clin Neurosci 1:202–204 Murovic JA, Posnick JC, Drake JM, Humphreys RP, Hoffman HJ, Hendricks EB (1993) Hydrocephalus in Apert syndrome: a retrospective review. Pediatr Neurosurg 19:151–155 Noetzel MJ, Marsh JL, Palkes H, Gado M (1985) Hydrocephalus and mental retardation in craniosynostosis. J Pediatr 107:885–892 Proudman TW, Clark BE, Moore MH, Abbott AH, David DJ (1995) Central nervous system imaging in Crouzon’s syndrome. J Craniofac Surg 6:401–405 Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D (1996) Prognosis for mental function in Apert’s syndrome. J Neurosurg 85:66–72. doi:10.3171/jns.1996.85.1.0066
