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Dentinogenesis imperfecta of primary and permanent teeth

MedGen UID:
869121
•Concept ID:
C4023539
•
Congenital Abnormality
Synonyms: Dentinogenesis imperfecta of adult and baby teeth; Dentinogenesis imperfecta of both sets of teeth
 
HPO: HP:0011086

Definition

Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentinogenesis imperfecta of primary and permanent teeth

Recent clinical studies

Etiology

Case report: Rehabilitation of a child with dentinogenesis imperfecta with CAD/CAM approach: Three-year follow-up.
Sarapultseva M, Leleko A, Sarapultsev A
Spec Care Dentist 2020 Sep;40(5):511-518. Epub 2020 Jul 26 doi: 10.1111/scd.12500. PMID: 32713056
Dentinogenesis Imperfecta Type II in Children: A Scoping Review.
Garrocho-Rangel A, Dávila-Zapata I, Martínez-Rider R, Ruiz-Rodríguez S, Pozos-Guillén A
J Clin Pediatr Dent 2019;43(3):147-154. Epub 2019 Apr 9 doi: 10.17796/1053-4625-43.3.1. PMID: 30964718
Hereditary dentine dysplasias: terminology in the context of osteogenesis imperfecta.
Chetty M, Roberts T, Stephen LX, Beighton P
Br Dent J 2016 Dec 9;221(11):727-730. doi: 10.1038/sj.bdj.2016.915. PMID: 27932823
Dentinogenesis imperfecta: a review and case report of a family over four generations.
Bhandari S, Pannu K
Indian J Dent Res 2008 Oct-Dec;19(4):357-61. doi: 10.4103/0970-9290.44543. PMID: 19075443
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Diagnosis

A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
Dentinogenesis Imperfecta Type II in Children: A Scoping Review.
Garrocho-Rangel A, Dávila-Zapata I, Martínez-Rider R, Ruiz-Rodríguez S, Pozos-Guillén A
J Clin Pediatr Dent 2019;43(3):147-154. Epub 2019 Apr 9 doi: 10.17796/1053-4625-43.3.1. PMID: 30964718
Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study.
Majorana A, Bardellini E, Brunelli PC, Lacaita M, Cazzolla AP, Favia G
Int J Paediatr Dent 2010 Mar;20(2):112-8. doi: 10.1111/j.1365-263X.2010.01033.x. PMID: 20384825
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Dentinogenesis imperfecta: the importance of early treatment.
Delgado AC, Ruiz M, Alarcón JA, González E
Quintessence Int 2008 Mar;39(3):257-63. PMID: 18618042

Prognosis

Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
Intarak N, Budsamongkol T, Theerapanon T, Chanamuangkon T, Srijunbarl A, Boonprakong L, Porntaveetus T, Shotelersuk V
Oral Dis 2021 Jul;27(5):1257-1267. Epub 2020 Oct 16 doi: 10.1111/odi.13657. PMID: 32989910
Case report: Rehabilitation of a child with dentinogenesis imperfecta with CAD/CAM approach: Three-year follow-up.
Sarapultseva M, Leleko A, Sarapultsev A
Spec Care Dentist 2020 Sep;40(5):511-518. Epub 2020 Jul 26 doi: 10.1111/scd.12500. PMID: 32713056
Case report: Clinical, histological and ultrastructural characterization of type II dentinogenesis imperfecta.
Leal CT, Martins LD, Verli FD, de Souza MA, Ramos-Jorge ML
Eur Arch Paediatr Dent 2010 Dec;11(6):306-9. doi: 10.1007/BF03262769. PMID: 21108924
Dentinogenesis imperfecta: a review and case report of a family over four generations.
Bhandari S, Pannu K
Indian J Dent Res 2008 Oct-Dec;19(4):357-61. doi: 10.4103/0970-9290.44543. PMID: 19075443
Dentinogenesis imperfecta: an early treatment strategy.
Sapir S, Shapira J
Pediatr Dent 2001 May-Jun;23(3):232-7. PMID: 11447953

Clinical prediction guides

A Review of Dentinogenesis Imperfecta and Primary Dentin Disorders in Dogs.
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.
Intarak N, Budsamongkol T, Theerapanon T, Chanamuangkon T, Srijunbarl A, Boonprakong L, Porntaveetus T, Shotelersuk V
Oral Dis 2021 Jul;27(5):1257-1267. Epub 2020 Oct 16 doi: 10.1111/odi.13657. PMID: 32989910
Discrimination of morphological findings in dentine from osteogenesis imperfecta patients using combinations of polarized light microscopy, microradiography and scanning electron microscopy.
Lindau B, Dietz W, Lundgren T, Storhaug K, Norén JG
Int J Paediatr Dent 1999 Dec;9(4):253-61. doi: 10.1111/j.1365-263x.1999.00143.x. PMID: 10815583
Evaluation of oral problems in an osteogenesis imperfecta population.
O'Connell AC, Marini JC
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999 Feb;87(2):189-96. doi: 10.1016/s1079-2104(99)70272-6. PMID: 10052375
Altered collagen expression in human dentin: increased reactivity of type III and presence of type VI in dentinogenesis imperfecta, as revealed by immunoelectron microscopy.
Waltimo J, Risteli L, Risteli J, Lukinmaa PL
J Histochem Cytochem 1994 Dec;42(12):1593-601. doi: 10.1177/42.12.7983359. PMID: 7983359

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