Maxillofacial Plastic and Reconstructive Surgery

  • Volume 40
  • /
  • Pages.40.1-40.8
  • /
  • 2018
  • /
  • 2288-8101(pISSN)
  • /
  • 2288-8586(eISSN)
Korean Association of Maxillofacial Plastic and Reconstructive Surgeons (대한악안면성형재건외과학회)
권호 표지
DOI QR코드

DOI QR Code

Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome

  • Cha, Bong Kuen (Department of Orthodontics, College of Dentistry, Gangneung-Wonju National University) ;
  • Choi, Dong Soon (Department of Orthodontics, College of Dentistry, Gangneung-Wonju National University) ;
  • Jang, In San (Department of Orthodontics, College of Dentistry, Gangneung-Wonju National University) ;
  • Yook, Hyun Tae (Department of Orthodontics, College of Dentistry, Chunbuk National University) ;
  • Lee, Seung Youp (Department of Orthodontics, College of Dentistry, Chunbuk National University) ;
  • Lee, Sang Shin (Department of Oral Pathology, College of Dentistry, Gangneung-Wonju National University) ;
  • Lee, Suk Keun (Department of Oral Pathology, College of Dentistry, Gangneung-Wonju National University)
  • Received : 2018.10.10
  • Accepted : 2018.10.31
  • Published : 2018.12.31
Download PDF
⟨ Previous Next ⟩

Abstract

Background: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. Methods: Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. Results: The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters' view; shorter zygomatico-maxillary width (83.5 mm) in Waters' view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. Conclusion: Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.

Keywords

References

  1. Athanasiadis AP, Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P et al (2008) Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling. Fetal Diagn Ther 24:495-498 https://doi.org/10.1159/000181186
  2. Martelli H Jr, Paranaiba LM, de Miranda RT, Orsi J Jr, Coletta RD (2008) Apert syndrome: report of a case with emphasis on craniofacial and genetic features. Pediatr Dent 30:464-468
  3. Hutson LR Jr, Young E, Guarisco L (2007) Tracheal anomalies complicating ventilation of an infant with Apert syndrome. J Clin Anesth 19:551-554 https://doi.org/10.1016/j.jclinane.2007.02.015
  4. Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D et al (2009) Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 30:204-211 https://doi.org/10.1002/humu.20825
  5. Hajihosseini MK, Duarte R, Pegrum J, Donjacour A, Lana-Elola E et al (2009) Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. Dev Dyn 238:376-385 https://doi.org/10.1002/dvdy.21648
  6. Khong JJ, Anderson PJ, Hammerton M, Roscioli T, Selva D et al (2007) Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. J Craniofac Surg 18:39-42 https://doi.org/10.1097/01.scs.0000249358.74343.70
  7. Lilli C, Bellucci C, Baroni T, Aisa C, Carinci P et al (2007) FGF2 effects in periosteal fibroblasts bearing the FGFR2 receptor Pro253 Arg mutation. Cytokine 38:22-31 https://doi.org/10.1016/j.cyto.2007.04.007
  8. Piccione M, Antona V, Niceta M, Fabiano C, Martines M et al (2009) Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. Eur J Pediatr 168:1135-1139 https://doi.org/10.1007/s00431-008-0884-x
  9. Salazard B, Casanova D (2008) The Apert's syndrome hand: therapeutic management. Chir Main 27(Suppl 1):S115-S120 https://doi.org/10.1016/j.main.2008.07.014
  10. Piza-Katzer H, Baur EM, Rieger M, Balogh B (2008) A "simple" method for correction of the Apert's hand. Handchir Mikrochir Plast Chir 40:322-329 https://doi.org/10.1055/s-2008-1038447
  11. Tiwari A, Agrawal A, Pratap A, Lakshmi R, Narad R (2007) Apert syndrome with septum pellucidum agenesis. Singap Med J 48:e62-e65
  12. McIntosh BC, Lee SS, Ball LL, Persing JA (2008) Utilization of postcranioplasty skull molding caps in the treatment of Apert syndrome. J Craniofac Surg 19:1566-1570 https://doi.org/10.1097/SCS.0b013e31818c04e5
  13. Cha BK, Choi DS, Ngan P, Jost-Brinkmann PG, Kim SM et al (2011) Maxillary protraction with miniplates providing skeletal anchorage in a growing class III patient. Am J Orthod Dentofac Orthop 139:99-112 https://doi.org/10.1016/j.ajodo.2009.06.025
  14. Lilienthal B, Punnia-Moorthy A (1991) Limitations of rotational panoramic radiographs in the diagnosis of maxillary lesions. Case report. Aust Dent J 36:269-272 https://doi.org/10.1111/j.1834-7819.1991.tb00721.x
  15. Revonta M, Kuuliala I (1989) The diagnosis and follow-up of pediatric sinusitis: Water's view radiography versus ultrasonography. Laryngoscope 99:321-324
  16. Kragskov J, Bosch C, Gyldensted C, Sindet-Pedersen S (1997) Comparison of the reliability of craniofacial anatomic landmarks based on cephalometric radiographs and three-dimensional CT scans. Cleft Palate Craniofac J 34:111-116 https://doi.org/10.1597/1545-1569_1997_034_0111_cotroc_2.3.co_2
  17. ApSimon HT, Ives FJ, Khangure MS (1993) Cranial dural arteriovenous malformation and fistula. Radiological diagnosis and management. Review of thirty four patients. Australas Radiol 37:2-25 https://doi.org/10.1111/j.1440-1673.1993.tb00001.x
  18. Schady W, Metcalfe RA, Butler P (1987) The incidence of craniocervical bony anomalies in the adult Chiari malformation. J Neurol Sci 82:193-203 https://doi.org/10.1016/0022-510X(87)90018-9
  19. Lee SK, Kim YS, Jo YA, Seo JW, Chi JG (1996) Prenatal development of cranial base in normal Korean fetuses. Anat Rec 246:524-534 https://doi.org/10.1002/(SICI)1097-0185(199612)246:4<524::AID-AR11>3.0.CO;2-Q
  20. Smith TD, Siegel MI, Mooney MP, Burdi AR, Todhunter JS (1996) Vomeronasal organ growth and development in normal and cleft lip and palate human fetuses. Cleft Palate Craniofac J 33:385-394 https://doi.org/10.1597/1545-1569_1996_033_0385_vogadi_2.3.co_2
  21. Pirsig W (1992) Growth of the deviated septum and its influence on midfacial development. Facial Plast Surg 8:224-232 https://doi.org/10.1055/s-2008-1064654
  22. Esparza J, Hinojosa J, Garcia-Recuero I, Romance A, Pascual B et al (2008) Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases. Neurocirugia (Astur) 19:509-529 https://doi.org/10.1016/S1130-1473(08)70201-X
  23. Mitsukawa N, Satoh K, Hayashi T, Morishita T, Hosaka Y (2009) Atypical Apert syndrome: sequential and segmental distraction osteogenesis of the skull, midface, and mandible. Scand J Plast Reconstr Surg Hand Surg 43:109-112 https://doi.org/10.1080/02844310701383993
  24. Hansen L, Nolting D, Holm G, Hansen BF, Kjaer I (2004) Abnormal vomer development in human fetuses with isolated cleft palate. Cleft Palate Craniofac J 41:470-473 https://doi.org/10.1597/03-058.1
  25. Kimes KR, Mooney MP, Siegel MI, Todhunter JS (1992) Growth rate of the vomer in normal and cleft lip and palate human fetal specimens. Cleft Palate Craniofac J 29:38-42 discussion 42-33 https://doi.org/10.1597/1545-1569_1992_029_0038_grotvi_2.3.co_2
  26. Lee SK, Kim YS, Lim CY, Chi JG (1992) Prenatal growth pattern of the human maxilla. Acta Anat (Basel) 145:1-10 https://doi.org/10.1159/000147334
  27. Marucci DD, Dunaway DJ, Jones BM, Hayward RD (2008) Raised intracranial pressure in Apert syndrome. Plast Reconstr Surg 122:1162-1168 discussion 1169-1170 https://doi.org/10.1097/PRS.0b013e31818458f0
  28. Esparza J, Hinojosa J (2008) Complications in the surgical treatment of craniosynostosis and craniofacial syndromes: apropos of 306 transcranial procedures. Childs Nerv Syst 24:1421-1430 https://doi.org/10.1007/s00381-008-0691-8
  29. Morice A, Paternoster G, Ostertag A, James S, Cohen-Solal M et al (2018) Anterior skull base and pericranial flap ossification after frontofacial monobloc advancement. Plast Reconstr Surg 141:437-445 https://doi.org/10.1097/PRS.0000000000004040
  30. Orvidas LJ, Fabry LB, Diacova S, McDonald TJ (1999) Hearing and otopathology in Crouzon syndrome. Laryngoscope 109:1372-1375 https://doi.org/10.1097/00005537-199909000-00002
  31. Schwartz M, Kreiborg S, Skovby F (1996) First-trimester prenatal diagnosis of Crouzon syndrome. Prenat Diagn 16:155-158 https://doi.org/10.1002/(SICI)1097-0223(199602)16:2<155::AID-PD826>3.0.CO;2-7

Cited by

  1. Excessive ossification of the bandeau in Crouzon and Apert syndromes vol.48, pp.4, 2018, https://doi.org/10.1016/j.jcms.2020.02.022