Developmental defects of the teeth
- J Tim Wright, DDS, MS
J Tim Wright, DDS, MS
- Professor of Pediatric Dentistry
- The University of North Carolina
The close relationship among oral, systemic, and psychologic health requires that oral health be evaluated thoroughly as part of health maintenance supervision. An understanding of the normal sequence and patterns of tooth eruption is the foundation for identifying and treating children with abnormal dental development and optimizing their oral health. Distinguishing normal from pathological dental development requires careful evaluation of the patient, including medical, dental, and family history; clinical examination; radiographic evaluation; and possibly special laboratory tests.
Problems in dental development and syndromes associated with abnormal dental development are reviewed here. The normal anatomy and development of human dentition are discussed separately. (See "Anatomy and development of the teeth".)
Problems in tooth eruption include natal and neonatal teeth, premature eruption, and failed tooth eruption.
Natal and neonatal teeth — Teeth that are present in the oral cavity at the time of birth are natal teeth; those that erupt during the neonatal period are neonatal teeth. The majority of natal teeth are the primary mandibular incisors and are not extra or supernumerary teeth (image 1). Natal teeth may be associated with a variety of syndromes including chondroectodermal dysplasia (Ellis-van Creveld syndrome), pachyonychia congenita, Sotos syndrome, and Hallerman-Streiff syndrome .
Treatment of natal teeth may involve observation, smoothing of the incisal edge (to prevent potential discomfort during breastfeeding and ulceration in the floor of the mouth), or extraction . Extraction of natal teeth should be considered only if they cause feeding difficulties for the infant or mother. Excessive natal tooth mobility has been considered to be a risk for aspiration. However, aspiration rarely, if ever, occurs.
- Jones KL. Pattern of malformation differential diagnosis by anomalies. In: Smith's Recognizable patterns of Human Malformation, 6th ed, Elsevier Saunders, Philadelphia 2006. p.865.
- Mueller DT, Callanan VP. Congenital malformations of the oral cavity. Otolaryngol Clin North Am 2007; 40:141.
- Decker E, Stellzig-Eisenhauer A, Fiebig BS, et al. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet 2008; 83:781.
- van der Linden FP. Theoretical and practical aspects of crowding in the human dentition. J Am Dent Assoc 1974; 89:139.
- Brearley LJ, McKibben DH Jr. Ankylosis of primary molar teeth. I. Prevalence and characteristics. ASDC J Dent Child 1973; 40:54.
- Krakowiak FJ. Ankylosed primary molars. ASDC J Dent Child 1978; 45:288.
- Odeh R, Mihailidis S, Townsend G, et al. Prevalence of infraocclusion of primary molars determined using a new 2D image analysis methodology. Aust Dent J 2015.
- Steigman S, Koyoumdjisky-Kaye E, Matrai Y. Relationship of submerged deciduous molars to root resorption and development of permanent successors. J Dent Res 1974; 53:88.
- Jensen BL, Kreiborg S. Development of the dentition in cleidocranial dysplasia. J Oral Pathol Med 1990; 19:89.
- Smith NH. A histologic study of cementum in a case of cleidocranial dysostosis. Oral Surg Oral Med Oral Pathol 1968; 25:470.
- Lee B, Thirunavukkarasu K, Zhou L, et al. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 1997; 16:307.
- Mundlos S, Otto F, Mundlos C, et al. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89:773.
- Trimble LD, West RA, McNeill RW. Cleidocranial dysplasia: comprehensive treatment of the dentofacial abnormalities. J Am Dent Assoc 1982; 105:661.
- Frazier-Bowers SA, Simmons D, Wright JT, et al. Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofacial Orthop 2010; 137:160.e1.
- Crawford PJ, Aldred MJ. Regional odontodysplasia: a bibliography. J Oral Pathol Med 1989; 18:251.
- Collins MA, Mauriello SM, Tyndall DA, Wright JT. Dental anomalies associated with amelogenesis imperfecta: a radiographic assessment. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999; 88:358.
- Peters E, Cohen M, Altini M. Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia. Oral Surg Oral Med Oral Pathol 1992; 74:87.
- Jaureguiberry G, De la Dure-Molla M, Parry D, et al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol 2012; 122:1.
- Dixon GH, Stewart RE. Genetic aspects of anomalous tooth development. In: Oral Facial Genetics, Stewart RE, Prescott GE (Eds), CV Mosby Company, St. Louis 1976. p.124.
- Vastardis H, Karimbux N, Guthua SW, et al. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996; 13:417.
- Crawford PJ, Aldred MJ, Clarke A. Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. J Med Genet 1991; 28:181.
- Lammi L, Arte S, Somer M, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 2004; 74:1043.
- Belanger GK. Early treatment considerations for oligodontia in ectodermal dysplasia: a case report. Quintessence Int 1994; 25:705.
- Guckes AD, Brahim JS, McCarthy GR, et al. Using endosseous dental implants for patients with ectodermal dysplasia. J Am Dent Assoc 1991; 122:59.
- Murray JJ, Shaw L. Classification and prevalence of enamel opacities in the human deciduous and permanent dentitions. Arch Oral Biol 1979; 24:7.
- Seow WK. Enamel hypoplasia in the primary dentition: a review. ASDC J Dent Child 1991; 58:441.
- Wright JT. Hereditary defects of enamel. In: Dental Enamel Formation to Destruction, Robinson C, Kirkham K, Shore R (Eds), CRC Press, Boca Raton, FL 1995. p.193.
- Small BW, Murray JJ. Enamel opacities: prevalence, classifications and aetiological considerations. J Dent 1978; 6:33.
- Wright JT, Carrion IA, Morris C. The molecular basis of hereditary enamel defects in humans. J Dent Res 2015; 94:52.
- Richards A, Likimani S, Baelum V, Fejerskov O. Fluoride concentrations in unerupted fluorotic human enamel. Caries Res 1992; 26:328.
- Fejerskov O, Manji F, Baelum V. The nature and mechanisms of dental fluorosis in man. J Dent Res 1990; 69 Spec No:692.
- Bawden JW, Crenshaw MA, Wright JT, LeGeros RZ. Consideration of possible biologic mechanisms of fluorosis. J Dent Res 1995; 74:1349.
- DenBesten PK, Giambro NJ. Dental fluorosis. In: Dental Enamel Formation to Destruction, Robinson C, Kirkham J, Shore R (Eds), CRC Press, Boca Raton, FL 1995. p.245.
- Price JA, Bowden DW, Wright JT, et al. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet 1998; 7:563.
- Wright JT, Kula K, Hall K, et al. Analysis of the tricho-dento-osseous syndrome genotype and phenotype. Am J Med Genet 1997; 72:197.
- Wright JT, Hall KI, Deaton TG, Fine JD. Structural and compositional alteration of tooth enamel in hereditary epidermolysis bullosa. Connect Tissue Res 1996; 34:271.
- Aberdam D, Aguzzi A, Baudoin C, et al. Developmental expression of nicein adhesion protein (laminin-5) subunits suggests multiple morphogenic roles. Cell Adhes Commun 1994; 2:115.
- Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1988; 17:547.
- Bäckman B, Holmgren G. Amelogenesis imperfecta: a genetic study. Hum Hered 1988; 38:189.
- Lagerström M, Dahl N, Nakahori Y, et al. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 1991; 10:971.
- Rajpar MH, Harley K, Laing C, et al. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 2001; 10:1673.
- Hart PS, Hart TC, Michalec MD, et al. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 2004; 41:545.
- Kim JW, Simmer JP, Hart TC, et al. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 2005; 42:271.
- Wright JT, Frazier-Bowers S, Simmons D, et al. Phenotypic variation in FAM83H-associated amelogenesis imperfecta. J Dent Res 2009; 88:356.
- Lee SK, Seymen F, Kang HY, et al. MMP20 hemopexin domain mutation in amelogenesis imperfecta. J Dent Res 2010; 89:46.
- El-Sayed W, Parry DA, Shore RC, et al. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 2009; 85:699.
- O'Sullivan J, Bitu CC, Daly SB, et al. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet 2011; 88:616.
- Parry DA, Brookes SJ, Logan CV, et al. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet 2012; 91:565.
- Wright JT, Hart PS, Aldred MJ, et al. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res 2003; 44 Suppl 1:72.
- UNC School of Dentistry. Developmental Defects of the Teeth. https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/ (Accessed on January 13, 2016).
- Seow WK. Clinical diagnosis and management strategies of amelogenesis imperfectavariants. Pediatr Dent 1993; 15:384.
- Shields ED, Bixler D, el-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 1973; 18:543.
- Malmgren B, Lindskog S, Elgadi A, Norgren S. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet 2004; 114:491.
- Dong J, Gu T, Jeffords L, MacDougall M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am J Med Genet A 2005; 132A:305.
- Rajpar MH, Koch MJ, Davies RM, et al. Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 2002; 11:2559.
- He G, Ramachandran A, Dahl T, et al. Phosphorylation of phosphophoryn is crucial for its function as a mediator of biomineralization. J Biol Chem 2005; 280:33109.
- Kalk WW, Batenburg RH, Vissink A. Dentin dysplasia type I: five cases within one family. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998; 86:175.
- Ranta H, Lukinmaa PL, Waltimo J. Heritable dentin defects: nosology, pathology, and treatment. Am J Med Genet 1993; 45:193.
- Beattie ML, Kim JW, Gong SG, et al. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res 2006; 85:329.
- ERUPTION PROBLEMS
- Natal and neonatal teeth
- Abnormal eruption
- Failed teeth eruption
- - Inadequate space
- - Trauma
- - Ankylosis
- - Cleidocranial dysplasia
- - Primary failure of eruption
- - Other
- Congenitally missing teeth
- EXFOLIATION PROBLEMS
- ENAMEL DEFECTS
- Hereditary enamel defects
- - Tricho-dento-osseous syndrome
- - Junctional epidermolysis bullosa
- - Amelogenesis imperfecta
- Treatment of enamel defects
- DENTIN DEFECTS
- Dentinogenesis imperfecta
- Dentin dysplasia
- Systemic conditions