Craniofacial morphology in Turner syndrome karyotypes

  • Cvetanka Bajraktarova Miševska Ss. Cyril and Methodius University of Skopje, Faculty of Dentistry, Department of Orthodontics
  • Mirjana Kočova Ss. Cyril and Methodius University of Skopje, Medical Faculty, Pediatric Clinic
  • Lidija Kanurkova Ss. Cyril and Methodius University of Skopje, Medical Faculty, Pediatric Clinic
  • Gabriela Curcieva Cuckova Ss. Cyril and Methodius University of Skopje, Faculty of Dentistry, Department of Orthodontics
  • Bona Bajraktarova Ss. Cyril and Methodius University of Skopje, Faculty of Dentistry, Department of Pediatric Dentistry
  • Marija Maneva Ss. Cyril and Methodius University of Skopje, Faculty of Dentistry, Department of Orthodontics
  • Emilija Bajraktarova Valjakova Ss. Cyril and Methodius University of Skopje, Faculty of Dentistry, Department of Prosthodontics

Abstract


Introduction: A complete or partial absence of an X chromosome in the karyotype of phenotypic females has an impact on craniofacial morphology. The aim of this study was to determine the characteristics of the craniofacial complex in patients with Turner syndrome (TS), and to evaluate the influence of various karyotypes on craniofacial morphology.

Materials and methods: The study population was comprised of 40 TS female patients, aged 9.2 to 18 years, and 40 healthy females,aged 9.3 to 18 years, as the control group. The TS patients were subdivided according to karyotype. All study participants were evaluated cephalometrically. An analysis of variance (ANOVA) and Tukey’s multiple comparison test were used for analysis of the differences between the means in Turner subgroups and the control group.

Results: In general, the girls with TS were characterized by smaller dimensions and an altered morphology of the craniofacial complex compared with the unaffected girls. The curvature of the frontal bone was significantly increased, while the diameter of the head was reduced. Both the maxilla and mandible were retrognathic, posteriorly rotated, and reduced in antero-posterior length. The cranialbase was shorter and flattened. Among the different karoytypes, no significant differences were determined in the dimensions of the craniofacial complex in girls with TS.

Conclusions: Our findings indicate that the karyo type has no effect on craniofacial morphology and we confirmed that a specific model of craniofacial morphology in individuals with TS is present in early childhood.

References

Warburton D, Kline J, Stein Z, Susser M. Monosomy X: A chromosomal anomaly associated with young maternal age. Lancet. 1980;1(8161)167-9.

Lippe B. Turner syndrome. Endocrinol Metab Clin North Am. 1991; 20(1):121-52.

Frias JL, Davenport ML; Committee on Genetics and Section on Endocrinology. Health supervision for children with Turner syndrome. Pediatrics. 2003;111(3):692-702.

Kočova M. Turner syndrome-challenge for early diagnosis and successful therapy. Reviews in Pediatrics. 2010;12:61-7.

Kočova M, Anastasovska V, Ilieva G, Šukarova Angelovska E. Cytogenetic findings in girls with Turner phenotype. 4th Balkan Meetings on Human Genetics, Novi Sad, Yugoslavia, Book of abstracts; 2001. p.17.

Elsheikh M, Dunger DB, Conway GS, Wass JA. Turner’s syndrome in adulthood. Endocr Rev. 2002;23(1):120-40.

Szilagyi A, Madlena M, Nagy G. The role of the paediatric dentist to initially diagnose and provide early treatment of Turner’s syndrome: a case report. Eur J Paediatr Dent. 2000;1(4):185-90.

Laine T, Alvesalo L, Savolainen A, Lammi S. Occlusal morphology in 45,X females. J Craniofac Genet Dev Biol. 1986;6(4):351-5.

Mayhall JT, Alvesalo L, Townsend GC. Tooth crown size in 46, X, i (Xq) human females. Arch Oral Biol. 1991;36(6):411-4.

Midtbo M, Halse A. Tooth crown size and morphology in Turner syndrome. Acta Odontol Scand. 1994;52(1):7-19.

Szilagyi A, Keszthelyi G, Madlena M, Nagy G. Morphologic alterations of tooth crown in patients with Turner syndrome and its association with orthodontic anomalies. Fogorv Sz. 2000;93(9):268- 76. Hungarian.

Rizell S, Barrenas ML, Andlin-Sobocki A, Stecksen-Blicks C, Kjellberg H. Turner syndrome isochromosome karyotype correlates with decreased dental crown width. Eur J Orthod. 2012;34(2):213-8.

Alvesalo L, Tammisalo E. Enamel thickness in 45,X females’ permanent teeth. Am J Hum Genet. 1981;33(3):464-9.

Varrela J, Townsend G, Alvesalo L. Tooth crown size in human females with 45,X/46,XX chromosomes. Arch Oral Biol. 1988;33(5):291-4.

Harju M, Laine T, Alvesalo L. Occlusal anomalies in 45,X/46,XXand 46,Xi(Xq)-women (Turner syndrome). Scand J Dent Res. 1989;97(5):387-91.

Midtbo M, Halse A. Occlusal morphology in Turner syndrome. Eur J Orthod. 1996;18(2):103-9.

Webber ML, Puck MH, Maresh MM, Goad WB, Robinson A. Short communication: skeletal maturation of children with sex chromosome abnormalities. Pediatr Res. 1982;16(5):343-6.

Jensen BL. Craniofacial morphology in Turner syndrome. J Craniofac Genet Dev Biol. 1985;5(4):327-40.

Ogiuchi H, Takano K, Tanaka M, Hizuka N, Takagi S, Sangu Y, et al. Oro-maxillofacial development in patients with Turner’s syndrome. Endocrinol Jpn. 1985;32(6):881-90.

Midtbo M, Halse A. Skeletal maturity, dental maturity, and eruption in young patients with Turner syndrome. Acta Odontol Scand. 1992;50(5):303-12.

Peltomaki T, Alvesalo L, Isotupa K. Shape of the craniofacial complex in 45,X females: cephalometric study. J Craniofac Genet Dev Biol. 1989;9(4):331-8.

Midtbo M, Wisth JP, Halse A. Craniofacial morphology in young patients with Turner syndrome. Eur J Orthod. 1996;18(3):215-25.

Perkiomaki MR, Kyrkanides S, Niinimaa A, Alvesalo L. The relationship of distinct craniofacial features between Turner syndrome females and their parents. Eur J Orthod. 2005;27(1):48-52.

Dumancic J, Kaic Z, Varga ML, Lauc T, Dumic M, Milosevic SA, et al. Characteristics of the craniofacial complex in Turner syndrome. Arch Oral Biol. 2010;55(1):81-8.

Rongen-Westerlaken C, vd Born E, Prahl-Andersen B, Rikken B, Teunenbroek V, Kamminga N, et al. Shape of the craniofacial complex in children with Turner syndrome. J Biol Buccale. 1992;20(4):185-90.

Babić M, Sćepan I, Mićić M. Comparative cephalometric analysis in pati-ents with X-chromosome aneuploidy. Arch Oral Biol. 1993;38(2):179-83.

Rizell S, Barrenas ML, Andlin-Sobocki A, Stecksen-Blicks C, Kjellberg H. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome. Eur J Orthod. 2013;35(4):467-74.

Minitab Inc. MINITAB Reference Manual PC Version Release 8. Rosemont (PA): Minitab; 1991.

Dahlberg G. Statistical methods for medical and biological students. London: George Allen and Unwin; 1940.

Hall BK. Mechanisms of craniofacial development. In: Vig KW, Burdi JA, editors. Craniofacial morphogenesis and dysmorphogenesis. Ann Arbor: University of Michigan; 1988. p. 1-21.

Babić M, Glisić B, Sćepan I. Mandibular growth pattern in Turner’s syndrome. Eur J Orthod. 1997;19(2):161-4.

Park E, Bailey JD, Cowell CA. Growth and maturation of patients with Turner’s syndrome. Pediatr Res. 1983;17(1):1-7.

Hass AD, Simmons KE, Davenport ML, Proffit WR. The effect of growth hormone on craniofacial growth and dental maturation in Turner syndrome. Angle Orthod. 2001;71(1):50-9.

Lopez ME, Bazan C, Lorca IA, Chervonagura A. Oral and clinical characteristics of a group of patients with Turner syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002;94(2):196-204.

Faggella A, Guadagni MG, Cocchi S, Tagariello T, Piana G. Dental features in patients with Turner syndrome. Eur J Paediatr Dent. 2006;7(4):165-8.

Gron M. Effects of human X and Y chromosomes on oral and craniofacial morphology, Studies of 46,XY females, 47,XYY males and 45,X/46,XX females. [dissertation]. Oulu: Institute of Dentistry University of Oulu; 1999.

Published
2017/10/04
Section
Original Scientific Papers