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Tricho-dento-osseous syndrome (TDO), is a very rare, autosomal dominant genetic disorder, commonly characterized by curly hair at infancy, severe enamel hypomineralization and hypoplasia with taurodontism teeth, bone defects and other deformities. Other phenotypic features include flat fingernails and altered craniofacial morphology. A genetic linkage has been identified on chromosome 17q21 in the DLX3 gene. Treatment plan of TDO is to prevent problems such as sensitivity and dental attrition of the hypoplastic structure of the tooth, to promote the esthetics and encourage self-confidence of the patient. In this case report, we present a family with the proband father, and the two children siblings affected by the TDO syndrome. We describe clinical and radiological features, along with dental characteristics and genetic background. Management of TDO syndrome necessitates a multidisciplinary approach, appropriate documentation, and long-term follow up.

References

  1. Lichtenstein J, Warson R, Jorgenson R, Dorst JP, McKusick VA. The tricho-dento-osseous (TDO) syndrome. American Journal of Human Genetics. 1972;24(5):569-582.
     Google Scholar
  2. Robinson GC, Miller JR, Worth HM. Hereditary enamel hypoplasia: its association with characteristic hair structure. Pediatrics. 1966;37(3):498-502.
     Google Scholar
  3. Witkop CJ, Worth HM. Tricho-dento-osseous syndrome. Birth defects compendium: Bergsma D. National Foundation March of Dimes, second edition. 1973.
     Google Scholar
  4. Al-Batayneh OB. Tricho-dento-osseous syndrome: Diagnosis and dental management. International Journal of Dentistry. 2012:1-9.
     Google Scholar
  5. Lichtenstein J, Warson RW. Syndrome of dental anomalies, curly hair and sclerotic bones. Birth Defects Original Article Series. 1971;7(7):308-311.
     Google Scholar
  6. Shapiro SD, Quattromani FL, Jorgenson RJ, Young RS. Tricho-dento-osseous syndrome: heterogeneity or clinical variability. American Journal of Medical genetics. 1983;16(2):225-236.
     Google Scholar
  7. Quattromani F, Shapiro SD, Young RS, et al. Clinical heterogeneity in the trichodento-osseous syndrome. Human Genetics. 1983:64(2):116-121.
     Google Scholar
  8. Price JA, Wright JT, Kula K, Bowden DW, Hart TC. A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. Journal Medical genetics. 1988; 35:825-828.
     Google Scholar
  9. Parul J, Rahul K, Subrata S, Subir S. Tricho-dento-osseous syndrome and precocious eruption. Journal of clinical and experimental dentistry. 2017;9(3): e494-e497.
     Google Scholar
  10. Robinson GW, Mahon KA. Differential and overlapping expression domains of Dlx-2 and Dlx-3 suggest distinct roles for Distal-less homeobox genes in craniofacial development. Mechanisms of Development. 1994;48(3):199-215.
     Google Scholar
  11. Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation DLX3 associated with tricho-dento-osseous (TDO) syndrome. Human Molecular Genetics. 1998;7(3)563-569.
     Google Scholar
  12. Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21. Human Molecular Genetics. 1997;6(13):2279-2284.
     Google Scholar
  13. Choi SJ, Song IS, Ryu OH, et al. A 4bp deletion mutation in DLX3 enhances osteoblastic differentiation and bone formation in vitro. Bone. 2008;42(1):162-171.
     Google Scholar
  14. NGutenberg T, Phillips C, Frazier-Bower S, Wright T. Craniofacial variations in the tricho-dento-osseous syndrome. Clin Genet. 2013;83(4):375-9.
     Google Scholar
  15. Zhang Z, Tian H, Lv P, Wang W, Jia Z, Wang S, Zhou C, Gao X. Transcriptional factor DLX3 promotes the gene expression of enamel matrix proteins during amelogenesis. PLoS One. 2015;10(3):e0121288.
     Google Scholar
  16. Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Lunder HU. DLX3 c.561_562delCT mutation causes attentuated phenotype of tricho-dento-osseous syndrome. Am J Med Genet A. 2008;146A(3):343-9.
     Google Scholar
  17. Ghoul-Mazgar S, Hotton D, Lezot F, Blin-Wakkach C, Asselin A, Sautier JM, Bernal A. Expression pattern of Dlx3 during cell differentiation in mineralized tissues. Bone. 2005;37(6):799-809.
     Google Scholar
  18. Viale-Bouroncle S, Klingelhoffer C, Ettl T, Reichert TE, Morsczeck C. A protein kinase A (PKA)/β-catenin pathway sustains the BMP2/DLX3-induced osteogenic differentiation in dental follicle cells (DFCs). Cell Signal. 2015; 27(3):598-605.
     Google Scholar
  19. Price JA, Wright JT, Walker SJ, Crawford PJ, Aldried MJ, Hart TC. Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurdontism are genetically distinct conditions. Clin Genet. 1999;56:35-40.
     Google Scholar
  20. Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A. 2005;133:138-41.
     Google Scholar