Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Child's Nervous System
Published in: Child's Nervous System 9/2012

01-09-2012 | Special Annual Issue

Complex craniosynostoses: a review of the prominent clinical features and the related management strategies

Authors: G. Tamburrini, M. Caldarelli, L. Massimi, G. Gasparini, S. Pelo, C. Di Rocco

Published in: Child's Nervous System | Issue 9/2012

Login to get access

Abstract

The protocols for clinical evaluation and management of children with complex craniosynostoses are significantly different from those used in single suture forms. The time at which the various anatomical and functional anomalies observed in the affected subjects become clinically relevant varies from patient to patient, consequently requiring a tailored approach. The clinical course is variable and influenced by multiple factors, acting at different steps of the children growth. Intracranial hypertension is a major concern already in the first months of life; active cerebrospinal fluid (CSF) dynamics disorders, venous hypertension, and progressive craniocerebral disproportion are considered the main pathogenetic factors. Cranial vault and skull base sutures synostoses account for the frequently observed increased venous pressure. Skull base abnormalities lead to upper airways obstruction, which, on one side, might create significant upper airways obstructive problems and, on the other, contribute to the increase in the intracranial pressure. Secondary Chiari malformation is common and considered as a progressive disorder, mainly due to progressive craniocerebral disproportion, venous hypertension, and CSF dynamics disorders. Optic nerve and orbit-related eye-globe diseases are also a major concern. Papilledema is mostly related to increased intracranial pressure. The skull base synostotic process is the base of significant abnormalities of the orbital space, ending in the common feature of significant proptosis with the consequent risk of corneal ulcers. Aims of this paper are to analyze the physiopathogenetic mechanisms at the base of the clinical manifestations presented by children with complex craniosynostoses, and the therapeutic options currently available.
Literature
1.
Ahmed J, Marucci D, Cochrane L, Heywood RL, Wyatt ME, Leighton SE (2008) The role of the nasopharyngeal airway for obstructive sleep apnoea in syndromic craniosynostosis. J Craniofac Surg 19:659–663PubMedCrossRef
2.
Al-Saleh S, Riekstins A, Forrest CR, Philips JH, Gibbons J, Narang I (2011) Sleep-related disordered breathing in children with syndromic craniosynostosis. J Craniomaxillofac Surg 39(3):153–157PubMedCrossRef
3.
Amonoo-Kuofi K, Phillips SP, Randhawa PS, Lane R, Wyatt ME, Leighton SE (2009) Adenotonsillectomy for sleep-disordered breathing in children with syndromic craniosynostosis. J Craniofac Surg 20:1978–1980PubMedCrossRef
4.
Arnaud E, Marchac D, Renier D (2001) Distraction osteogenesis with double internal devices combined with early frontal facial advancement for the correction of facial craniosynostosis: report of clinical cases. Ann Chir Plast Esthet 46:268–276PubMedCrossRef
5.
Arnaud E, Marchac D, Renier D (2007) Reduction of morbidity of the frontofacial monobloc advancement in children by the use of internal distraction. Plast Reconstr Surg 120:1009–1026PubMedCrossRef
6.
Bannink N, Joosten KF, van Veelen ML, Bartels MC, Tasker RC, van Adrichem LN, van der Meulen JJ, Vaandrager JM, de Jong TH, Mathijssen IM (2008) Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. J Craniofac Surg 19(1):121–127PubMed
7.
Bannink N, Mathijssen IM, Joosten KF (2010) Can parents predict obstructive sleep apnea in children with syndromic or complex craniosynostosis? Int J Oral Maxillofac Surg 39(5):421–423PubMedCrossRef
8.
Bannink N, Nout E, Wolvius EB, Hoeve HL, Joosten KF, Mathijssen IM (2010) Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg 39(2):115–121PubMedCrossRef
9.
Blount JP, Louis RG Jr, Tubbs RS, Grant JH (2007) Pansynostosis: a review. Childs Nerv Syst 23(10):1103–1109PubMedCrossRef
10.
Cinalli G, Chumas P, Arnaud E, Sainte-Rose C, Renier D (1998) Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation. Neurosurgery 42:66–73PubMedCrossRef
11.
Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A (1995) (1995) Chronic tonsillar herniation in Crouzon’s and Apert’s syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575–582PubMedCrossRef
12.
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(2):209–214PubMedCrossRef
13.
Cinalli G, Spennato P, Sainte-Rose C, Arnaud E, Aliberti F, Brunelle F, Cianciulli E, Renier D (2005) Chiari malformation in craniosynostosis. Childs Nerv Syst 21(10):889–901PubMedCrossRef
14.
Cohen MM Jr, Kreiborg S (1992) Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 44:90–93PubMedCrossRef
15.
Collmann H, Soerensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21:902–912PubMedCrossRef
16.
Collmann H, Sörensen N, Krauss J, Mühling J (1988) Hydrocephalus in craniosynostosis. Childs Nerv Syst 4(5):279–285PubMed
17.
Davidoff E (1977) Primary premature craniosynostosis. Ophthalmic Semin 2:247–282PubMed
18.
de Jong T, Rijken BF, Lequin MH, van Veelen ML, Mathijssen IM (2012) Brain and ventricular volume in patients with syndromic and complex craniosynostosis. Childs Nerv Syst 28(1):137–140PubMedCrossRef
19.
Di Rocco F, Jucà CE, Arnaud E, Renier D, Sainte-Rose C (2010) The role of endoscopic third ventriculostomy in the treatment of hydrocephalus associated with faciocraniosynostosis. J Neurosurg Pediatrics 6:17–22CrossRef
20.
Driessen C, Bannink N, Lequin M, van Veelen ML, Naus NC, Joosten KF, Mathijssen IM (2011) Are ultrasonography measurements of optic nerve sheath diameter an alternative to funduscopy in children with syndromic craniosynostosis? J Neurosurg Pediatr 8(3):329–334PubMedCrossRef
21.
Eide PK, Helseth E, Due-Tonnessen B, Lundar T (2001) Changes in intracranial pressure after calvarial expansion surgery in children with slit ventricle syndrome. Pediatr Neurosurg 35:195–204PubMedCrossRef
22.
Eide PK, Fremming AD (2001) A new method and software for quantitative analysis of continuous intracranial pressure recordings. Acta Neurochir 143:1237–1247CrossRef
23.
Eide PK, Helseth E, Tonnessen BD, Triggve L (2002) Assessment of continuous intracranial pressure recordings in childhood craniosynostosis. Pediatr Neurosurg 37:310–320PubMedCrossRef
24.
Fearon JA, Rhodes J (2009) Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg 123:1560–1569PubMedCrossRef
25.
Fleisher KE, Krieger AC (2007) Current trends in the treatment of obstructive sleep apnea. J Oral Maxillofac Surg 65(10):2056–2068PubMedCrossRef
26.
Flores RL, Shetye PR, Zeitler D et al (2009) Airway changes following Le Fort III distraction osteogenesis for syndromic craniosynostosis: a clinical and cephalometric study. Plast Reconstr Surg 124:590–601PubMedCrossRef
27.
Francis PM, Beals S, Rekate HL, Pittman HW, Manwaring K, Reiff J (1992) Chronic tonsillar herniation and Crouzon’s syndrome. Pediatr Neurosurg 18:202–206PubMedCrossRef
28.
Fujisawa H, Hasegawa M, Kida S, Yamashita J (2002) A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. J Neurosurg 97:396–400PubMedCrossRef
29.
Gambardella G, Zaccone C, Cardia E, Tomasello F (1993) Intracranial pressure monitoring in children: comparison of external ventricular device with the fiberoptic system. Childs Nerv Syst 9:470–473PubMedCrossRef
30.
Goldstein NA, Sculerati N, Walsleben JA (1994) Clinical diagnosis of pediatric OSA validated by polysomnogram. Otolaryngol Head Neck Surg 111(5):611–617
31.
Gonsalez S, Thompson D, Hayward R, Lane R (1996) Treatment of obstructive sleep apnoea using nasal CPAP in children with craniofacial dysostoses. Childs Nerv Syst 12:713–719PubMedCrossRef
32.
Gonsalez S, Thompson D, Hayward R, Lane R (1998) Breathing patterns in children with craniofacial dysostosis and hindbrain herniation. Eur Respir J 11:866–872PubMedCrossRef
33.
Hayward R, Gonsalez S (2005) How low can you go? Intracranial pressure, cerebral perfusion pressure, and respiratory obstruction in children with complex craniosynostosis. J Neurosurg 102(1 Suppl):16–22PubMed
34.
35.
Hoeve LJ, Pijpers M, Joosten KF (2003) OSAS in craniofacial syndromes: an unsolved problem. Int J Pediatr Otorhinolaryngol 67:S111–S113PubMedCrossRef
36.
Hoffman HJ, Hendrick EB (1979) Early neurosurgical repair in craniofacial dysmorphism. J Neurosurg 51:796–803PubMedCrossRef
37.
Hopkins TE, Haines SJ (2003) Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. J Neurosurg 98:1113–1115PubMedCrossRef
38.
Jarund M, Dellborg C, Carlson J, Lauritzen C, Ejnell H (1999) Treatment of sleep apnoea with continuous positive airway pressure in children with craniofacial malformations. Scand J Plast Reconstr Surg Hand Surg 33:67–71PubMedCrossRef
39.
Kreiborg S, Cohen MM Jr (2010) Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. J Craniofac Surg 21(5):1354–1357PubMedCrossRef
40.
Leach J, Olson J, Hermann J (1992) Polysomnographic and clinical findings in children with OSA. Arch Otolaryngol Head Neck Surg 118:741–744PubMedCrossRef
41.
Marin-Padilla M, Marin-Padilla TM (1981) Morphogenesis of experimentally induced Arnold-Chiari malformation. J Neurol Sci 50:29–55PubMedCrossRef
42.
Mitsukawa N, Satoh K (2010) Midfacial distraction using a transfacial pinning technique for syndromic craniosynostosis with obstructive respiratory disorders. J Plast Reconstr Aesthet Surg 63(12):1990–1994PubMedCrossRef
43.
Mixter RC, David DJ, Perloff WH, Green CG, Pauli RM, Popic PM (1990) Obstructive sleep apnoea in Apert’s and Pfeiffer’s syndromes: more than a craniofacial abnormality. Plast Reconstr Surg 86:457–463PubMedCrossRef
44.
Mulliken JB, Steinberger D, Kunze S et al (1999) Molecular diagnosis of bilateral bicoronal synostosis. Plast Reconstr Surg 104:1603–1615PubMedCrossRef
45.
Naski MC, Wang Q, Xu J, Ornitz DM (1996) Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 13:233–237PubMedCrossRef
46.
Nelson TE, Mulliken JB, Padwa BL (2008) Effect of midfacial distraction on the obstructed airway in patients with syndromic bilateral coronal synostosis. J Oral Maxillofac Surg 66(11):2318–2321PubMedCrossRef
47.
Noorily MR, Farmer DL, Belenky WM, Philippart AI (1999) Congenital tracheal anomalies in the craniosynostosis syndromes. J Pediatr Surg 34:1036–1039PubMedCrossRef
48.
Pang KP, Terris DJ (2006) Screening for obstructive sleep apnea: an evidence-based analysis. Am J Otolaryngol 27(2):112–118PubMedCrossRef
49.
Pellerin P, Capon-Desgardin N, Martinot-Duquennoy V et al (2001) Mid-facial distraction without osteotomy with a trans-facial pin: report of 4 clinical cases. Ann Chir Plast Esthet 46:277–284PubMedCrossRef
50.
Peterson-Falzone SJ, Pruzansky S, Parris PJ, Laffer JL (1981) Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon. Cleft Palate J 18:237–250PubMed
51.
Pijpers M, Poels PJ, Vaandrager JM, de Hoog M, van den Berg S, Hoeve HJ (2004) Undiagnosed obstructive sleep apnoea syndrome in children with syndromal craniofacial synostosis. J Craniofac Surg 15:670–674PubMedCrossRef
52.
Pollack IF, Losken HW, Biglan AW (1996) Incidence of increased intracranial pressure after early surgical treatment of syndromic craniosynostosis. Pediatr Neurosurg 24(4):202–209PubMedCrossRef
53.
Pople IK, Muhlbauer MS, Sanford RA, Kirk E (1995) Results and complications of intracranial pressure monitoring in 303 children. Pediatr Neurosurg 23:64–67PubMedCrossRef
54.
Renier D, Sainte-Rose C, Marchac D et al (1982) Intracranial pressure in craniostenosis. J Neurosurg 57:370–377PubMedCrossRef
55.
Rich PM, Cox TC, Hayward RD (2003) The jugular foramen in complex and syndromic craniosynostosis and its relationship to raised intracranial pressure. AJNR Am J Neuroradiol 24(1):45–51PubMed
56.
Richardson D, Thiruchelvam JK. Craniofacial surgery for orbital malformations (2006) Eye (Lond) 20(10):1224–1227
57.
Rollins N, Booth T, Shapiro K (2000) MR venography in children with complex craniosynostosis. Pediatr Neurosurg 6:308–315CrossRef
58.
Sainte-Rose C, LaCombe J, Pierre-Kahn A, Renier D, Hirsch JF (1984) Intracranial venous sinus hypertension: cause or consequence of hydrocephalus in infants? J Neurosurg 60(4):727–736PubMedCrossRef
59.
Sgouros S, Goldin JH, Hockley AD, Wake MJC (1996) Posterior skull surgery in craniosynostosis. Childs Nerv Syst 12:727–733PubMedCrossRef
60.
Sgouros S, Natarajan K, Hockley AD, Goldin JH, Wake M (1999) Skull base growth in craniosynostosis. Pediatr Neurosurg 31:281–293PubMedCrossRef
61.
Siddiqi SN, Posnick JC, Buncic R, Humphreys RP, Hoffman HJ, Drake JM, Rutka JT (1995) The detection and management of intracranial hypertension after initial suture release and decompression for craniofacial dysostosis syndromes. Neurosurgery 36(4):703–708, discussion 708-9PubMedCrossRef
62.
Sirotnak J, Brodsky L, Pizzuto M (1995) Airway obstruction in the Crouzon syndrome: case report and reviewof the literature. Int J Pediatr Otorhinolaryngol 31:235–246PubMedCrossRef
63.
Strahle J, Muraszko KM, Buchman SR, Kapurch J, Garton HJ, Maher CO (2011) Chiari malformation associated with craniosynostosis. Neurosurg Focus 31(3):E2PubMedCrossRef
64.
Suen JS, Arnold JE, Brooks LJ (1995) Adenotonsillectomy for treatment of OSA in children. Arch Otolaryngol Head Neck Surg 121:525–530PubMedCrossRef
65.
Tamburrini G, Caldarelli M, Massimi L, Santini P, Di Rocco C (2005) Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review. Childs Nerv Syst 21(10):913–921PubMedCrossRef
66.
Taylor WJ, Hayward RD, Lasjaunias P, Britto JA, Thompson DN, Jones BM, Evans RD (2001) Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainage. J Neurosurg 94(3):377–385PubMedCrossRef
67.
Thompson DN, Jones BM, Harkness W, Gonsalez S, Hayward RD (1997) Consequences of cranial vault expansion surgery for craniosynostosis. Pediatr Neurosurg 26(6):296–303PubMedCrossRef
68.
Thompson DNP, Harkness W, Jones BM, Hayward RD (1997) Aetiology of herniation of the hindbrain in craniosynostosis. Pediatr Neurosurg 26:288–295PubMedCrossRef
69.
Tuite GF, Chong WK, Evanson J, Narita A, Taylor D, Harkness WF, Jones BM, Hayward RD (1996) The effectiveness of papilledema as an indicator of raised intracranial pressure in children with craniosynostosis. Neurosurgery 38(2):272–278PubMedCrossRef
70.
Ueeck B, Le B, Goodman S, Rich L, Wheatley M (2001) Corneal ulcers in patients with Apert syndrome. J Craniofac Surg 2(2):134–135CrossRef
71.
Wang RC, Elkins TP, Keech D (1998) Accuracy of clinical evaluation in paediatric OSA. Otolaryngol Head Neck Surg 118:69–73PubMedCrossRef
72.
White N, Evans M, Dover MS, Noons P, Solanki G, Nishikawa H (2009) Posterior calvarial vault expansion using distraction osteogenesis. Childs Nerv Syst 25(2):231–236PubMedCrossRef
73.
Witherow H, Dunaway D, Evans R, Nischal KK, Shipster C, Pereira V, Hearst D, White M, Jones BM, Hayward R (2008) Functional outcomes in monobloc advancement by distraction using the rigid external distractor device. Plast Reconstr Surg 121:1311–132PubMedCrossRef
74.
Yucel A, Unlu M, Haktanir A, Acar M, Fidan F (2005) Evaluation of the upper airway cross-sectional area changes in different degrees of severity of obstructive sleep apnea syndrome: cephalometric and dynamic CT study. AJNR Am J Neuroradiol 26(10):2624–269
Metadata
Title
Complex craniosynostoses: a review of the prominent clinical features and the related management strategies
Authors
G. Tamburrini
M. Caldarelli
L. Massimi
G. Gasparini
S. Pelo
C. Di Rocco
Publication date
01-09-2012
Publisher
Springer-Verlag
Published in
Child's Nervous System / Issue 9/2012
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-012-1819-4

Other articles of this Issue 9/2012

Child's Nervous System 9/2012 Go to the issue

Special Annual Issue

Scaphocephaly correction with retrocoronal and prelambdoid craniotomies (Renier’s “H” technique)

Special Annual Issue

Complications of frontofacial advancement

Special Annual Issue

Unicoronal synostotic plagiocephaly: surgical correction: Lille's technique

Special Annual Issue

Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification

Special Annual Issue

High-resolution imaging of craniofacial sutures: new tools for understanding the origins of craniosynostoses

Special Annual Issue

Anterior fronto-orbital remodeling for trigonocephay