Congenital Craniofacial Abnormalities
Abstract
Congenital craniofacial abnormalities affect growth of the skull and face result in craniofacial deformities, limited brain development, increase intracranial pressure and disturb blood brain circulation and also cerebrospinal fluid in the brain. Most of these disorders are caused by craniosynostosis. The severity of the craniofacial deformities and brain development depend on the age of onset, the number and location of the associated cranial sutures involvement. The incidence rate was found between 1 to 2,100 and 1 to 2,500 of live birth around the world. They are classified into 2 types: non-syndromic craniosynostosis and syndromic craniosynostosis. The most common non-syndromic craniosynostosis are sagittal craniosynostosis (60%), unicoronal craniosynostosis (15-20%), bicoronal craniosynostosis (5-10%), metopic craniosynostosis (15%) and lambdoid craniosynostosis (2%) The most common types of syndromic craniosynostosis are Muenke syndrome, Crouzon syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome and Apert syndrome. Although craniosynostosis is a rare craniofacial deformity in Thailand. it leads to the disability and impairment of the nervous system, intelligence, and learning ability. Early diagnosis and appropriate treatment are important to reduce disability and improve the quality of life.
References
Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D and Renier D: Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 1995;55(4): 500-504. PMID: 7762595. DOI: 10.1002/ajmg.1320550422
Cohen MM Jr and MacLean RE Jr: Craniosynostosis: Diagnosis. Evaluation and management. Cohen MM Jr (ed.), 2nd ed. Oxford University Press 2000 :119-146
Boulet SL, Rasmussen SA and Honein MA: A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet A 2008;146A(8): 984-991. PMID: 18344207. DOI: 10.1002/ajmg.a.32208
Johnson D, Wilkie AO: Craniosynostosis. Eur J Hum Genet 2011;19: 369–376.
Governale LS: Craniosynostosis. Pediatr Neurol 2015;53(5): 394 401. PMID: 26371995. DOI: 10.1016/j.pediatrneurol. 2015.07.006
Opperman LA: Cranial sutures as intramembranous bone growth sites. Dev Dyn 2000;219(4): 472-485. PMID: 11084647. DOI: 10.1002/1097-0177(2000)9999:99993.0. CO;2-F
Slater BJ, Lenton KA, Kwan MD, Gupta DM, Wan DC and Longaker MT: Cranial sutures: a brief review. Plast Reconstr Surg 2008;121(4): 170e-178e. PMID: 18349596. DOI: 10.1097/ 01.prs.0000304441.99483.97
Rice DP: Craniofacial sutures. Development, disease and treatment. Preface. Front Oral Biol 2008;12: xi. PMID: 18491429.
Aviv RI, Rodger E and Hall CM: Craniosynostosis. Clin Radiol 2002;57(2): 93-102. PMID: 11977940. DOI: 10.1053/crad. 2001.0836
Buchanan EP, Xue Y, Xue AS, Olshinka A, Lam S. Multidisciplinary care of craniosynostosis.Journal of Multidisciplinary Healthcare 2017;10:263-70
Ksjdic N, Spazzapan P, Velnar T. Craniosynostosis-Recognition, Clinical characteristics and treatment.Bosn J Basic Med Sci. 2018:18(2);110-16
Kjaer I. Neuro-osteology. Crit Rev Oral Biol Med 1998;9(2):224-44. https://doi.org/10.1177/10454411980090020501.
Yang L, Tsang KY, Tang HC, Chan D and Cheah KS: Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation. Proc Natl Acad Sci USA 2014;111(33): 12097-12102. PMID: 25092332. DOI: 10.1073/pnas. 1302703111
Cohen MM Jr: The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A 2006;140(23): 2646-2706. PMID: 17103447. DOI: 10.1002/ajmg.a.31368
Kim SY, Choi JW, Shin HJ and Lim SY: Reliable manifestations of increased intracranial pressure in patients with syndromic craniosynostosis. J Craniomaxillofac Surg 2019;47(1): 158-164. PMID: 30497950. DOI: 10.1016/j.jcms.2018.10.021
Alderman BW, Lammer EJ, Joshua SC, Cordero JF, Ouimette DR, Wilson MJ and Ferguson SW: An epidemiologic study of craniosynostosis: risk indicators for the occurrence of craniosynostosis in Colorado. Am J Epidemiol 1988;128(2): 431-438. PMID: 3394707. DOI: 10.1093/oxfordjournals.aje.a114983
Thomas GP, Wilkie AO, Richards PG and Wall SA: FGFR3 P250R mutation increases the risk of reoperation in apparent ‘nonsyndromic’ coronal craniosynostosis. J Craniofac Surg 2005;16(3): 347-52; discussion 353-4. PMID: 15915095. DOI: 10.1097/01.scs.0000157024.56055.f2
Källén K: Maternal smoking and craniosynostosis. Teratology 1999;60(3): 146-150. PMID: 10471899. DOI: 10.1002/(sici)1096 9926(199909)60:33.3.co;2-v
Reefhuis J, Honein MA, Shaw GM and Romitti PA: Fertility treatments and craniosynostosis: California, Georgia, and Iowa, 1993-1997. Pediatrics 2003;111(5 Pt 2): 1163-1166. PMID: 12728131.
Bautista G: Craniosynostosis: Neonatal perspectives. Neoreviews 2021;22(4): e250-e257. PMID: 33795400. DOI: 10.1542/neo.22-4-e250
Thaller SR, Hoyt J, Tesluk H and Holmes R: The effect of insulin growth factor-1 on calvarial sutures in a Sprague-Dawley rat. J Craniofac Surg 1993;4(1): 35-39. PMID: 8467020. DOI: 10.1097/00001665-199301000-00008
Opperman LA, Moursi AM, Sayne JR and Wintergerst AM: Transforming growth factor-beta 3(Tgf-beta3) in a collagen gel delays fusion of the rat posterior interfrontal suture in vivo. Anat Rec 2002;267(2):120-130. PMID: 11997880. DOI: 10.1002/ar.10094
Anderson PJ, Cox TC, Roscioli T, Elakis G, Smithers L, David DJ and Powell B: Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis. J Craniofac Surg 2007;18(2): 312-314. PMID: 17414280. DOI: 10.1097/scs.0b013e31802d6e76
Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M and Jabs EW: Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 1998;62(6): 1370-1380. PMID: 9585583. DOI: 10.1086/301855
Yapijakis C, Pachis N, Sotiriadou T, Valia C, MichopoulouI V, Vassiliou S. Molecular Mechanisms Involved in Craniosynostosis. In vivo 2023; 37:36-46
Hehr U and Muenke M: Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab 1999;68(2): 139 151. PMID: 10527665. DOI: 10.1006/mgme.1999.2915
Honnebier MB, Cabiling DS, Hetlinger M, McDonald-McGinn DM, Zackai EH and Bartlett SP: The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. Plast Reconstr Surg 2008;121(3): 919-931. PMID: 18317141. DOI: 10.1097/01.prs.0000299936.95276.24
el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A and Bonaventure J: Mutations of the TWIST gene in the Saethre Chotzen syndrome. Nat Genet 1997;15(1): 42-46. PMID: 8988167. DOI: 10.1038/ng0197-42
Dhamcharee V, Boles RG: FGFR mutations and plagiocephaly. J Craniofac Surg 2008;19(1): 290-291. PMID: 18216705. DOI: 10.1097/SCS.0b013e31815ca1e6
Wu X, Gu Y: Signaling mechanisms underlying genetic pathophysiology of craniosynostosis. Int J Biol Sci 2019;15(2): 298 311. PMID: 30745822. DOI: 10.7150/ijbs.29183
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O’Rourke AW, Williams LJ, Seller A and Lester T: Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A 2006;140(23): 2631-2639. PMID: 16838304. DOI: 10.1002/ajmg.a.31366
Vortkamp A, Franz T, Gessler M and Grzeschik KH: Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm Genome 1992;3(8): 461-463. PMID: 1322743. DOI: 10.1007/BF00356157
Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML and Mulliken JB: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993;75(3): 443-450. PMID: 8106171. DOI: 10.1016/0092-8674(93)90379-5
Carbonara C, Sbaitz L, Geniton L, Peretta P, Mussa F, Nurisso C, Restagno G, Belli S and Ferrero GB: A Novel N114D TWIST mutation in a Crouzon-like patient, ASHG. 49th Annual Meeting 1999; 19-23,.
Yi JJ, Barnes AP, Hand R, Polleux F and Ehlers MD: TGF-beta signaling specifies axons during brain development. Cell 2010;142(1): 144-157. PMID: 20603020. DOI: 10.1016/j.cell.2010.06.010
Cohen MM Jr: Discussion: Immunolocalization of transforming growth factors β-1, β-2, and β-3 and insulin-like growth factor I in premature cranial suture fusion. Plast Reconstr Surg 99: 310 316, 1997. PMID: 9030135. DOI: 10.1097/00006534 199702000-00002
Cohen MM Jr: Transforming growth factor beta s and fibroblast growth factors and their receptors: role in sutural biology and craniosynostosis. J Bone Miner Res 12(3): 322-331, 1997. PMID: 9076574. DOI: 10.1359/jbmr.1997.12.3.322
Singer S, Bower C, Southall P, Goldblatt J. Craniosynostosis in western Australia, 1980–1994: a population-based study. Am J Med Genet 1999;83(5):382–387.
Kolar JC, Salter EM, Weinberg SM. Preoperative craniofacial dysmor phology in isolated sagittal synostosis: a comprehensive anthropometric evaluation. J Craniofac Surg 2010;21(5):1404–1410.
Lajeunie E, Le Merrer M, Bonaïti-Pellie C, Marchac D, Renier D. Genetic study of scaphocephaly. Am J Med Genet 1996;62(3):282–285.
Fearon JA. Evidence-based medicine: craniosynostosis. Plast Reconstr Surg. 2014;133(5):1261–1275
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol 2007;14(3):150-61. https://doi.org/10.1016/j.spen.2007.08.008.
Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med 2014;16(4):302-10. https://doi.org/10.1038/gim.2013.134.
Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A, et al. Surgical treatment of isolated and syn dromic craniosynostosis. Results and complications in 283 consecutive cases. Neurocirugia (Astur) 2008;19(6):509-29. https://doi.org/10.1016/S1130-1473(08)70201-X.
Burokas L. Craniosynostosis: Caring for infants and their families. Crit Care Nurse 2013;33(4):39-50. https://doi.org/10.4037/ccn2013678.
Ursitti F, Fadda T, Papetti L, Pagnoni M, Nicita F, Iannetti G, et al. Evaluation and management of nonsyndromic craniosynostosis. Acta Peadiatr 2011;100(9):1185-94. https://doi.org/10.1111/j.1651-2227.2011.02299.x.
Shillito J Jr, Matson DD. Craniosynostosis: A review of 519 surgical patients. Pediatrics 1968;41(4):829-53.
Selber J, Reid RR, Chike-Obi CJ, et al. The changing epidemio logic spectrum of single-suture synostoses. Plast Reconstr Surg. 2008;122(2):527–533.
Buchanan EP, Xue AS, Hollier LH Jr. Craniofacial syndromes. Plast Reconstr Surg. 2014;134(1):128e–153e
Zaleckas L, Neverauskienė A, Daugelavicius V, Šidlovskaitė-Baltakė D, Raugalas R, Vištartaitė B, et al. Diagnosis and treatment of craniosyn ostosis: Vilnius team experience. Acta Med Litu 2015;22(2):111-21. https://doi.org/10.6001/actamedica.v22i2.3126
Spazzapan P, Bosnjak R, Velnar T. Craniofacial reconstruction of the skull in anterior plagiocephaly: A case report. Br J Med Med Res 2016;18(2):1-7. https://doi.org/10.9734/BJMMR/2016/28075
Bastidas N, Mackay DD, Taylor JA, Bartlett SP. Analysis of the long term outcomes of nonsyndromic bicoronal synostosis. Plast Reconstr Surg. 2012;130(4):877–883.
Sharma RK. Craniosynostosis. Indian J Plast Surg 2013;46(1):18-27. https://doi.org/10.4103/0970-0358.113702.
Haas-Lude K, Wolff M, Will B, Bender B, Krimmel M. Clinical and imaging findings in children with non-syndromic lambdoid synos tosis. Eur J Pediatr 2014;173(4):435-40. https://doi.org/10.1007/s00431-013-2186-1.
Mulliken JB, Vander Woude DL, Hansen M, LaBrie RA, Scott RM. Analysis of posterior plagiocephaly: Deformational versus synos totic. Plast Reconstr Surg 1999;103(2):371-80. https://doi.org/10.1097/00006534-199902000-00003.
Wilkie AOM, Johnson D, Wall SA: Clinical genet ics of craniosynostosis. Curr Opin Pediatr 2017;29: 622–628
O Hara J. Ruggiero F. Wilson L, James G, Glass G, Jeelani O, et.al. Syndromic Craniosynostosis: Complex of Clinical Care. Mol Syndromol. 2019:10: 83-97
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, 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: 555–564
Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, et al: Muenke syndrome (FGFR3 related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A 2007;143A:3204–3215
Agochukwu NB, Solomon BD, Muenke M: Im pact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst 2012;28: 1447–1463
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, et al: Muenke syn drome: an international multicenter natural history study. Am J Med Genet A 2016;170A:918 929
de Jong T, Bannink N, Bredero-Boelhouwer HH, van Veelen ML, Bartels MC, et al: Long-term functional outcome in 167 patients with syn dromic craniosynostosis; defining a syn drome-specific risk profile. J Plast Reconstr Aesthet Surg 2010;63: 1635–1641
Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, et al: Medial temporal lobe dysgenesis in Muenke syndrome and hypo chondroplasia. Am J Med Genet A 2003;120A:88 91
Twigg SR, Wilkie AO: A genetic-pathophysiolog ical framework for craniosynostosis. Am J Hum Genet 2015;97: 359–377
Schweitzer DN, Graham JM Jr, Lachman RS, Jabs EW, Okajima K, et al: Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3 Am J Med Genet A 2001;98: 75–91
Di Rocco F, Collet C, Legeai-Mallet L, Arnaud E, Le Merrer M. et al: Crouzon syndrome with acanthosis nigricans: a case-based update. Childs Nerv Syst 2011;27: 349–354
Reddy K, Hoffman H, Armstrong D: Delayed and progressive multiple suture craniosynostosis. Neurosurgery 1990;26: 442–448
Kolar JC, Munro IR, Farkas LG: Patterns of dys morphology in Crouzon syndrome: an an thropometric study. Cleft Palate J 1988;25: 235–244
Kreiborg S, Barr M, Cohen MM Jr: Cervical spine in the Apert syndrome. Am J Med Genet A 1992;43: 704–708
Connolly JP, Gruss J, Seto ML, Whelan MF, El lenbogen R, et al: Progressive postnatal cra niosynostosis and increased intracranial pres sure. Plast Reconstr Surg 2004;113: 1313–1323
Taylor WJ, Hayward RD, Lasjaunias P, Britto JA, Thompson DN, et al: Enigma of raised intra cranial pressure in patients with complex cra niosynostosis: the role of abnormal intracra nial venous drainage. J Neurosurg 2001;94: 377 385
Saethre H: Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomolo gie). Dtsch Z Nervenheilkd 1931;117: 533–555
Chotzen F: Eine eigenartige familiäre Entwick lungsstörung (Akrocephalosyndaktylie, Dys tosis craniofacialis und Hypertelorismus). Monatsschr Z Kinderheilkd 1932;55: 97–122
Buchanan EP, Xue AS, Hollier LH Jr: Craniofacial syndromes. Plast Reconstr Surg 2014;134: 128e 153e
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, et al: Mutations in TWIST , a basic helix-loop-helix transcription factor, in Sae thre-Chotzen syndrome. Nat Genet 1997;15: 36–41
Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, et al: A comprehensive screen for TWIST mutations in patients with cranio synostosis identifies a new microdeletion syn drome of chromosome band 7p21.1. Am J Hum Genet 1998;63: 1282–1293
Pfeiffer RA: Dominant hereditary acrocephalo syndactylia (in German). Z Kinderheilkd 1964;90: 301–320
Cohen MM Jr: Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diag nosis. Am J Med Genet 1993;45: 300–307
Greig AV, Wagner J, Warren SM, Grayson B, Mc Carthy JG: Pfeiffer syndrome: analysis of a clinical series and development of a classifica tion system. J Craniofac Surg 2013;24: 204–215
Hayward R: Venous hypertension and craniosyn ostosis. Childs Nerv Syst 2005;21: 880–888
Florisson JM, Barmpalios G, Lequin M, van Vee len ML, Bannink N, et al: Venous hyperten sion in syndromic and complex craniosynos tosis: the abnormal anatomy of the jugular foramen and collaterals. J Craniomaxillofac Surg 2015;43: 312–318
Hanieh A, David DJ: Apert’s syndrome. Childs Nerv Syst 1993;9: 289–291
Collmann H, Sörensen N, Krauss J: Hydrocepha lus in craniosynostosis: a review. Childs Nerv Syst 2005;21: 902–912
Renier D, Lajeunie E, Arnaud E, Marchac D: Management of craniosynostoses. Childs Nerv Sys 2000;16: 645–658
Marucci DD, Dunaway DJ, Jones BM, Hayward RD: Raised intracranial pressure in Apert syn drome. Plast Reconstr Surg 2008;122: 1162–1168
Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, et al: Clinical variability in pa tients with Apert’s syndrome. J Neurosurg 1999;90: 443–447
Peterson SJ, Pruzansky S: Palatal anomalies in the syndromes of Apert and Crouzon. Cleft Palate J 1974;11: 394–403
Patton MA, Goodship J, Hayward R, Lansdown R: Intellectual development in Apert’s syn drome: a long term follow up of 29 patients. J Med Genet 1988;25: 164–167
Tovetjärn R, Tarnow P, Maltese G, Fischer S, Sah lin PE, Kölby L: Children with Apert syn drome as adults: a follow-up study of 28 Scan dinavian patients. Plast Reconstr Surg 2012;130: 572e–576e
Raposo-Amaral CE, Neto JG, Denadai R, Raposo Amaral CM, Raposo-Amaral CA: Patient reported quality of life in highest-functioning Apert and Crouzon Syndromes. Plast Recon str Surg 2014;133: 182e–191e
Downloads
Published
Versions
- 2025-09-01 (2)
- 2025-08-31 (1)
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
บทความที่ได้รับการตีพิมพิ์เป็นลิขสิทธิ์ของวารสารโรงพยาบาลชลบุรี