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

Child's Nervous System

Volumn 28, Issue 9, 2012, Pages 1511-1523

  Tamburrini, G ^a   Caldarelli, M ^a   Massimi, L ^a   Gasparini, G ^a   Pelo, S ^a   Di Rocco, C ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

Chiari malformation; Craniosynostoses; Hydrocephalus; Intracranial hypertension; Ocular problems; Syndromic; Upper airways obstruction

Indexed keywords

FIBROBLAST GROWTH FACTOR 1; FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR 3; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ADENOIDECTOMY; ADENOTONSILLECTOMY; AMBLYOPIA; ARNOLD CHIARI MALFORMATION; ARTICLE; ASTIGMATISM; BRAIN VENTRICLE DILATATION; CENTRAL SLEEP APNEA SYNDROME; CEREBROSPINAL FLUID SHUNTING; CHILD GROWTH; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CORNEA ULCER; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DECOMPRESSION SURGERY; DISEASE ASSOCIATION; DIVERGENT STRABISMUS; ELECTROMYOGRAM; ENDOSCOPY; EXOPHTHALMOS; FACE SURGERY; FACIAL BIPARTITION; FRONTO ORBITO MAXILLARY ADVANCEMENT; GENE MUTATION; HUMAN; HYDROCEPHALUS; HYPERTELORISM; IMMUNOHISTOCHEMISTRY; INTRACRANIAL HYPERTENSION; INTRACRANIAL PRESSURE MONITORING; MACROGLOSSIA; MIDFACE ADVANCEMENT; MIDFACE HYPOPLASIA; NOSE SEPTUM RECONSTRUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOTOMY; PAPILLEDEMA; PERFUSION PRESSURE; POSTERIOR CRANIAL VAULT EXPANSION; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SKULL BASE; SKULL DEFECT; SKULL SURGERY; SLEEP APNEA SYNDROME; STRABISMUS; SYRINGOMYELIA; TRACHEOSTOMY; UPPER RESPIRATORY TRACT OBSTRUCTION; VENOUS CIRCULATION; VENOUS PRESSURE;

AIRWAY OBSTRUCTION; ARNOLD-CHIARI MALFORMATION; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; CRANIOSYNOSTOSES; HUMANS; INTRACRANIAL HYPERTENSION; MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84866054112     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-012-1819-4     Document Type: Article

References (74)

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 19:659-663
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):153-157
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 20:1978-1980
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 46:268-276
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 120:1009-1026
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):121-127
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):421-423
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):115-121
9. Blount JP, Louis RG Jr, Tubbs RS, Grant JH (2007) Pansynostosis: a review. Childs Nerv Syst 23(10):1103-1109
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 42:66-73
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 83:575-582
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):209-214
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):889-901
14. Cohen MM Jr, Kreiborg S (1992) Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 44:90-93
15. Collmann H, Soerensen N, Krauss J (2005) Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 21:902-912
16. Collmann H, Sörensen N, Krauss J, Mühling J (1988) Hydrocephalus in craniosynostosis. Childs Nerv Syst 4(5):279-285
17. Davidoff E (1977) Primary premature craniosynostosis. Ophthalmic Semin 2:247-282
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):137-140
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 6:17-22
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):329-334
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 35:195-204
22. Eide PK, Fremming AD (2001) A new method and software for quantitative analysis of continuous intracranial pressure recordings. Acta Neurochir 143:1237-1247
23. Eide PK, Helseth E, Tonnessen BD, Triggve L (2002) Assessment of continuous intracranial pressure recordings in childhood craniosynostosis. Pediatr Neurosurg 37:310-320
24. Fearon JA, Rhodes J (2009) Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg 123:1560-1569
25. Fleisher KE, Krieger AC (2007) Current trends in the treatment of obstructive sleep apnea. J Oral Maxillofac Surg 65(10):2056-2068
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 124:590-601
27. Francis PM, Beals S, Rekate HL, Pittman HW, Manwaring K, Reiff J (1992) Chronic tonsillar herniation and Crouzon's syndrome. Pediatr Neurosurg 18:202-206
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 97:396-400
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 9:470-473
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 12:713-719
32. Gonsalez S, Thompson D, Hayward R, Lane R (1998) Breathing patterns in children with craniofacial dysostosis and hindbrain herniation. Eur Respir J 11:866-872
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):16-22
34. Hayward R (2005) Venous hypertension and craniosynostosis. Childs Nerv Syst 21(10):880-888
35. Hoeve LJ, Pijpers M, Joosten KF (2003) OSAS in craniofacial syndromes: an unsolved problem. Int J Pediatr Otorhinolaryngol 67:S111-S113
36. Hoffman HJ, Hendrick EB (1979) Early neurosurgical repair in craniofacial dysmorphism. J Neurosurg 51:796-803
37. Hopkins TE, Haines SJ (2003) Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. J Neurosurg 98:1113-1115
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 33:67-71
39. Kreiborg S, Cohen MM Jr (2010) Ocular manifestations of Apert and Crouzon syndromes: qualitative and quantitative findings. J Craniofac Surg 21(5):1354-1357
40. Leach J, Olson J, Hermann J (1992) Polysomnographic and clinical findings in children with OSA. Arch Otolaryngol Head Neck Surg 118:741-744
41. Marin-Padilla M, Marin-Padilla TM (1981) Morphogenesis of experimentally induced Arnold-Chiari malformation. J Neurol Sci 50:29-55
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):1990-1994
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 86:457-463
44. Mulliken JB, Steinberger D, Kunze S et al (1999) Molecular diagnosis of bilateral bicoronal synostosis. Plast Reconstr Surg 104:1603-1615
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 13:233-237
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):2318-2321
47. Noorily MR, Farmer DL, Belenky WM, Philippart AI (1999) Congenital tracheal anomalies in the craniosynostosis syndromes. J Pediatr Surg 34:1036-1039
48. Pang KP, Terris DJ (2006) Screening for obstructive sleep apnea: an evidence-based analysis. Am J Otolaryngol 27(2):112-118
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 46:277-284
50. Peterson-Falzone SJ, Pruzansky S, Parris PJ, Laffer JL (1981) Nasopharyngeal dysmorphology in the syndromes of Apert and Crouzon. Cleft Palate J 18:237-250
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 15:670-674
52. Pollack IF, Losken HW, Biglan AW (1996) Incidence of increased intracranial pressure after early surgical treatment of syndromic craniosynostosis. Pediatr Neurosurg 24(4):202-209
53. Pople IK, Muhlbauer MS, Sanford RA, Kirk E (1995) Results and complications of intracranial pressure monitoring in 303 children. Pediatr Neurosurg 23:64-67
54. Renier D, Sainte-Rose C, Marchac D et al (1982) Intracranial pressure in craniostenosis. J Neurosurg 57:370-377
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):45-51
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 6:308-315
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):727-736
59. Sgouros S, Goldin JH, Hockley AD, Wake MJC (1996) Posterior skull surgery in craniosynostosis. Childs Nerv Syst 12:727-733
60. Sgouros S, Natarajan K, Hockley AD, Goldin JH, Wake M (1999) Skull base growth in craniosynostosis. Pediatr Neurosurg 31:281-293
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 708-9
62. Sirotnak J, Brodsky L, Pizzuto M (1995) Airway obstruction in the Crouzon syndrome: case report and reviewof the literature. Int J Pediatr Otorhinolaryngol 31:235-246
63. Strahle J, Muraszko KM, Buchman SR, Kapurch J, Garton HJ, Maher CO (2011) Chiari malformation associated with craniosynostosis. Neurosurg Focus 31(3):E2
64. Suen JS, Arnold JE, Brooks LJ (1995) Adenotonsillectomy for treatment of OSA in children. Arch Otolaryngol Head Neck Surg 121:525-530
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):913-921
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):377-385
67. Thompson DN, Jones BM, Harkness W, Gonsalez S, Hayward RD (1997) Consequences of cranial vault expansion surgery for craniosynostosis. Pediatr Neurosurg 26(6):296-303
68. Thompson DNP, Harkness W, Jones BM, Hayward RD (1997) Aetiology of herniation of the hindbrain in craniosynostosis. Pediatr Neurosurg 26:288-295
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):272-278
70. Ueeck B, Le B, Goodman S, Rich L, Wheatley M (2001) Corneal ulcers in patients with Apert syndrome. J Craniofac Surg 2(2):134-135
71. Wang RC, Elkins TP, Keech D (1998) Accuracy of clinical evaluation in paediatric OSA. Otolaryngol Head Neck Surg 118:69-73
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):231-236
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 121:1311-132
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