Syndromic Craniosynostosis

Abstract

Although most cases of craniosynostosis are nonsyndromic, craniosynostosis is known to occur in conjunction with other anomalies in well-defined patterns that make up clinically recognized syndromes. Patients with syndromic craniosynostoses are much more complicated to care for, requiring a multidisciplinary approach to address all of their needs effectively.

This review describes the most common craniosynostosis syndromes, their characteristic features and syndrome-specific functional issues, and new modalities utilized in their management. General principles including skull development, the risk of developing increased intracranial pressure in craniosynostosis syndromes, and techniques to measure intracranial pressure are discussed. Evolving techniques of the established operative management of craniosynostosis are discussed together with more recent techniques including spring cranioplasty and posterior cranial vault distraction osteogenesis.

Keywords

syndromic craniosynostosis - intracranial pressure - posterior vault distraction - spring cranioplasty - midface distraction

• References

• 1 Tamburrini G, Caldarelli M, Massimi L, Santini P, Di Rocco C. Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review. Childs Nerv Syst 2005; 21 (10) 913-921
• 2 Gonsalez S, Hayward R, Jones B, Lane R. Upper airway obstruction and raised intracranial pressure in children with craniosynostosis. Eur Respir J 1997; 10 (2) 367-375
• 3 Taylor WJ, Hayward RD, Lasjaunias P , et al. Enigma of raised intracranial pressure in patients with complex craniosynostosis: the role of abnormal intracranial venous drainage. J Neurosurg 2001; 94 (3) 377-385
• 4 Marucci DD, Dunaway DJ, Jones BM, Hayward RD. Raised intracranial pressure in Apert syndrome. Plast Reconstr Surg 2008; 122 (4) 1162-1168, discussion 1169–1170
• 5 Tuite GF, Chong WK, Evanson J , et al. The effectiveness of papilledema as an indicator of raised intracranial pressure in children with craniosynostosis. Neurosurgery 1996; 38 (2) 272-278
• 6 Tuite GF, Evanson J, Chong WK , et al. The beaten copper cranium: a correlation between intracranial pressure, cranial radiographs, and computed tomographic scans in children with craniosynostosis. Neurosurgery 1996; 39 (4) 691-699
• 7 Wiegand C, Richards P. Measurement of intracranial pressure in children: a critical review of current methods. Dev Med Child Neurol 2007; 49 (12) 935-941
• 8 Newman WD, Hollman AS, Dutton GN, Carachi R. Measurement of optic nerve sheath diameter by ultrasound: a means of detecting acute raised intracranial pressure in hydrocephalus. Br J Ophthalmol 2002; 86 (10) 1109-1113
• 9 Driessen C, Bannink N, Lequin M , et al. Are ultrasonography measurements of optic nerve sheath diameter an alternative to funduscopy in children with syndromic craniosynostosis?. J Neurosurg Pediatr 2011; 8 (3) 329-334
• 10 Thompson DA, Liasis A, Hardy S , et al. Prevalence of abnormal pattern reversal visual evoked potentials in craniosynostosis. Plast Reconstr Surg 2006; 118 (1) 184-192
• 11 Fearon JA, Rhodes J. Pfeiffer syndrome: a treatment evaluation. Plast Reconstr Surg 2009; 123 (5) 1560-1569
• 12 Cinalli G, Spennato P, Sainte-Rose C , et al. Chiari malformation in craniosynostosis. Childs Nerv Syst 2005; 21 (10) 889-901
• 13 Cinalli G, Renier D, Sebag G, Sainte-Rose C, Arnaud E, Pierre-Kahn A. Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 1995; 83 (4) 575-582
• 14 Cinalli G, Chumas P, Arnaud E, Sainte-Rose C, Renier D. Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation. Neurosurgery 1998; 42 (1) 66-71 , discussion 71–73
• 15 Gault DT, Renier D, Marchac D, Jones BM. Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 1992; 90 (3) 377-381
• 16 Renier D, Sainte-Rose C, Marchac D, Hirsch JF. Intracranial pressure in craniostenosis. J Neurosurg 1982; 57 (3) 370-377
• 17 Thompson DN, Harkness W, Jones B, Gonsalez S, Andar U, Hayward R. Subdural intracranial pressure monitoring in craniosynostosis: its role in surgical management. Childs Nerv Syst 1995; 11 (5) 269-275
• 18 Sgouros S, Goldin JH, Hockley AD, Wake MJ. Posterior skull surgery in craniosynostosis. Childs Nerv Syst 1996; 12 (11) 727-733
• 19 Wall SA, Goldin JH, Hockley AD, Wake MJ, Poole MD, Briggs M. Fronto-orbital re-operation in craniosynostosis. Br J Plast Surg 1994; 47 (3) 180-184
• 20 Cornejo-Roldan LR, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 1999; 104 (5) 425-431
• 21 Muenke M, Schell U, Hehr A , et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994; 8 (3) 269-274
• 22 Cohen Jr MM. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993; 45 (3) 300-307
• 23 Howard TD, Paznekas WA, Green ED , et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997; 15 (1) 36-41
• 24 el Ghouzzi V, Le Merrer M, Perrin-Schmitt F , et al. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997; 15 (1) 42-46
• 25 Foo R, Guo Y, McDonald-McGinn DM, Zackai EH, Whitaker LA, Bartlett SP. The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. Plast Reconstr Surg 2009; 124 (6) 2085-2095
• 26 Woods RH, Ul-Haq E, Wilkie AO , et al. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 2009; 123 (6) 1801-1810
• 27 Paznekas WA, Cunningham ML, Howard TD , et al. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998; 62 (6) 1370-1380
• 28 Johnson D, Horsley SW, Moloney DM , et al. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 1998; 63 (5) 1282-1293
• 29 Wong GB, Kakulis EG, Mulliken JB. Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes. Plast Reconstr Surg 2000; 105 (7) 2314-2323
• 30 Bartlett SP, Foo R. Discussion. Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 2009; 123 (6) 1811-1812
• 31 Muenke M, Gripp KW, McDonald-McGinn DM , et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997; 60 (3) 555-564
• 32 Honnebier MB, Cabiling DS, Hetlinger M, McDonald-McGinn DM, Zackai EH, Bartlett SP. The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. Plast Reconstr Surg 2008; 121 (3) 919-931
• 33 Cassileth LB, Bartlett SP, Glat PM , et al. Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. Plast Reconstr Surg 2001; 108 (7) 1849-1854
• 34 Sabatino G, Di Rocco F, Zampino G, Tamburrini G, Caldarelli M, Di Rocco C. Muenke syndrome. Childs Nerv Syst 2004; 20 (5) 297-301
• 35 Moloney DM, Wall SA, Ashworth GJ , et al. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 1997; 349 (9058) 1059-1062
• 36 Doherty ES, Lacbawan F, Hadley DW , et al. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A 2007; 143A (24) 3204-3215
• 37 Thomas GP, Wilkie AO, Richards PG, Wall SA. FGFR3 P250R mutation increases the risk of reoperation in apparent ‘nonsyndromic’ coronal craniosynostosis. J Craniofac Surg 2005; 16 (3) 347-352 , discussion 353–354
• 38 Arnaud E, Meneses P, Lajeunie E, Thorne JA, Marchac D, Renier D. Postoperative mental and morphological outcome for nonsyndromic brachycephaly. Plast Reconstr Surg 2002; 110 (1) 6-12 , discussion 13
• 39 Czerwinski M, Kolar JC, Fearon JA. Complex craniosynostosis. Plast Reconstr Surg 2011; 128 (4) 955-961
• 40 Paige KT, Vega SJ, Kelly CP , et al. Age-dependent closure of bony defects after frontal orbital advancement. Plast Reconstr Surg 2006; 118 (4) 977-984
• 41 Steinbacher DM, Skirpan J, Puchała J, Bartlett SP. Expansion of the posterior cranial vault using distraction osteogenesis. Plast Reconstr Surg 2011; 127 (2) 792-801
• 42 White N, Evans M, Dover MS, Noons P, Solanki G, Nishikawa H. Posterior calvarial vault expansion using distraction osteogenesis. Childs Nerv Syst: ChNS: official journal of the International Society for Pediatric Neurosurgery 2009; 25 (2) 231-236
• 43 Fearon JA. Midterm follow-up of midface distraction. Plast Reconstr Surg 2008; 122 (2) 674-675
• 44 Bradley JP, Gabbay JS, Taub PJ , et al. Monobloc advancement by distraction osteogenesis decreases morbidity and relapse. Plast Reconstr Surg 2006; 118 (7) 1585-1597
• 45 McCarthy JG, Schreiber J, Karp N, Thorne CH, Grayson BH. Lengthening the human mandible by gradual distraction. Plast Reconstr Surg 1992; 89 (1) 1-8 , discussion 9–10
• 46 Shetye PR, Boutros S, Grayson BH, McCarthy JG. Midterm follow-up of midface distraction for syndromic craniosynostosis: a clinical and cephalometric study. Plast Reconstr Surg 2007; 120 (6) 1621-1632
• 47 Kobayashi S, Honda T, Saitoh A, Kashiwa K. Unilateral coronal synostosis treated by internal forehead distraction. J Craniofac Surg 1999; 10 (6) 467-471 , discussion 472
• 48 Davis C, MacFarlane MR, Wickremesekera A. Occipital expansion without osteotomies in Apert syndrome. Childs Nerv Syst: ChNS: official journal of the International Society for Pediatric Neurosurgery 2010; 26 (11) 1543-1548
• 49 Lauritzen CG, Davis C, Ivarsson A, Sanger C, Hewitt TD. The evolving role of springs in craniofacial surgery: the first 100 clinical cases. Plast Reconstr Surg 2008; 121 (2) 545-554
• 50 Taylor JA, Maugans TA. Comparison of spring-mediated cranioplasty to minimally invasive strip craniectomy and barrel staving for early treatment of sagittal craniosynostosis. J Craniofac Surg 2011; 22 (4) 1225-1229
• 51 Greene AK, Mulliken JB, Proctor MR, Rogers GF. Pediatric cranioplasty using particulate calvarial bone graft. Plast Reconstr Surg 2008; 122 (2) 563-571
• 52 Gilardino MS, Jandali S, Whitaker LA, Bartlett SP. Does the incidence of traumatic brain injury in children increase after craniofrontal surgery?. J Craniofac Surg 2011; 22 (4) 1284-1286
• 53 Arnaud E, Marchac D, Renier D. Reduction of morbidity of the frontofacial monobloc advancement in children by the use of internal distraction. Plast Reconstr Surg 2007; 120 (4) 1009-1026
• 54 Ponniah AJ, Witherow H, Richards R, Evans R, Hayward R, Dunaway D. Three-dimensional image analysis of facial skeletal changes after monobloc and bipartition distraction. Plast Reconstr Surg 2008; 122 (1) 225-231