DOI QR코드

DOI QR Code

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance

  • Spruijt, Nicole E. (Department of Plastic Surgery, University Medical Center) ;
  • Kon, Moshe (Department of Plastic Surgery, University Medical Center) ;
  • Molen, Aebele B. Mink Van Der (Department of Plastic Surgery, University Medical Center)
  • Received : 2014.01.21
  • Accepted : 2014.02.26
  • Published : 2014.07.15

Abstract

Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

Keywords

References

  1. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev 2008;14:3-10. https://doi.org/10.1002/ddrr.2
  2. Widdershoven JC, Beemer FA, Kon M, et al. Possible mechanisms and gene involvement in speech problems in the 22q11.2 deletion syndrome. J Plast Reconstr Aesthet Surg 2008;61:1016-23. https://doi.org/10.1016/j.bjps.2008.02.007
  3. Ricchetti ET, States L, Hosalkar HS, et al. Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. J Bone Joint Surg Am 2004;86:1751-60. https://doi.org/10.2106/00004623-200408000-00020
  4. Ruotolo RA, Veitia NA, Corbin A, et al. Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. Cleft Palate Craniofac J 2006;43:446-56. https://doi.org/10.1597/04-193.1
  5. Heliovaara A, Hurmerinta K. Craniofacial cephalometric morphology in children with CATCH 22 syndrome. Orthod Craniofac Res 2006;9:186-92. https://doi.org/10.1111/j.1601-6343.2006.00373.x
  6. Arvystas M, Shprintzen RJ. Craniofacial morphology in the velo-cardio-facial syndrome. J Craniofac Genet Dev Biol 1984;4:39-45.
  7. Molsted K, Boers M, Kjaer I. The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field. Am J Med Genet A 2010;152:1450-7.
  8. Axelsson S, Kjaer I, Bjornland T, et al. Longitudinal cephalometric standards for the neurocranium in Norwegians from 6 to 21 years of age. Eur J Orthod 2003;25:185-98. https://doi.org/10.1093/ejo/25.2.185
  9. Cohen MM Jr. Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives. Am J Med Genet 2002;115:245-68. https://doi.org/10.1002/ajmg.10982
  10. Persing JA, Morgan EP, Cronin AJ, et al. Skull base expansion: craniofacial effects. Plast Reconstr Surg 1991;87:1028-33. https://doi.org/10.1097/00006534-199106000-00003
  11. Wang X, Mao JJ. Chondrocyte proliferation of the cranial base cartilage upon in vivo mechanical stresses. J Dent Res 2002;81:701-5. https://doi.org/10.1177/154405910208101009
  12. Havkin N, Tatum SA, Shprintzen RJ. Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. Int J Pediatr Otorhinolaryngol 2000;54:103-10. https://doi.org/10.1016/S0165-5876(00)00350-5
  13. Nachmani A, Aizenbud D, Berger G, et al. The prevalence of platybasia in patients with velopharyngeal incompetence. Cleft Palate Craniofac J 2013;50:528-34. https://doi.org/10.1597/11-265
  14. Leveau-Geffroy S, Perrin JP, Khonsari RH, et al. Cephalometric study of the velocardiofacial syndrome: Impact of dysmorphosis on phonation. Rev Stomatol Chir Maxillofac 2011;112:11-5. https://doi.org/10.1016/j.stomax.2011.01.002
  15. Wang K, Yang Y, Shen F, et al. Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome. J Craniofac Surg 2009;20:2013-9. https://doi.org/10.1097/SCS.0b013e3181bd2e34
  16. Veerapandiyan A, Blalock D, Ghosh S, et al. The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome. Laryngoscope 2011;121:732-7. https://doi.org/10.1002/lary.21449
  17. Meijer MF. Testing speech of children born with a cleft. In: A report from the Speech therapy workgroup from the Dutch Association for Cleft Palate and Craniofacial Anomalies. Amsterdam (NL): Vrije Universiteit Medisch Centrum; 2003.
  18. Ricketts RM. The cranial base and soft structures in cleft palate speech and breathing. Plast Reconstr Surg (1946) 1954;14:47-61. https://doi.org/10.1097/00006534-195407000-00004
  19. Dalben Gda S, Richieri-Costa A, Taveira LA. Craniofacial morphology in patients with velocardiofacial syndrome. Cleft Palate Craniofac J 2010;47:241-6. https://doi.org/10.1597/08-278.1
  20. Glander K 2nd, Cisneros GJ. Comparison of the craniofacial characteristics of two syndromes associated with the Pierre Robin sequence. Cleft Palate Craniofac J 1992;29:210-9. https://doi.org/10.1597/1545-1569(1992)029<0210:COTCCO>2.3.CO;2
  21. Oberoi S, Vargervik K. Velocardiofacial syndrome with single central incisor. Am J Med Genet A 2005;132:194-7.
  22. Brennan AM, Pauli RM. Hajdu--Cheney syndrome: evolution of phenotype and clinical problems. Am J Med Genet 2001;100:292-310. https://doi.org/10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4
  23. Dogan S, Oncag G, Akin Y. Craniofacial development in children with unilateral cleft lip and palate. Br J Oral Maxillofac Surg 2006;44:28-33. https://doi.org/10.1016/j.bjoms.2005.07.023
  24. Smahel Z, Mullerova I. Nasopharyngeal characteristics in children with cleft lip and palate. Cleft Palate Craniofac J 1992;29:282-6. https://doi.org/10.1597/1545-1569(1992)029<0282:NCICWC>2.3.CO;2
  25. Han BJ, Suzuki A, Tashiro H. Longitudinal study of craniofacial growth in subjects with cleft lip and palate: from cheiloplasty to 8 years of age. Cleft Palate Craniofac J 1995;32:156-66. https://doi.org/10.1597/1545-1569(1995)032<0156:LSOCGI>2.3.CO;2

Cited by

  1. Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review vol.176, pp.10, 2014, https://doi.org/10.1002/ajmg.a.38545
  2. Impact of Cranial Base Abnormalities on Cerebellar Volume and the Velopharynx in 22q11.2 Deletion Syndrome vol.57, pp.4, 2014, https://doi.org/10.1177/1055665619874175
  3. Is there a correlation between skull base flexure and palatal anomalies in patients with 22q11 deletion syndrome and velopharyngeal dysfunction? vol.49, pp.9, 2014, https://doi.org/10.1016/j.jcms.2021.04.013