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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
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
Spectrum of dentin dysplasia in a family: case report and literature review.
Seow WK, Shusterman S
Pediatr Dent 1994 Nov-Dec;16(6):437-42. PMID: 7854952

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
Morphology of dental enamel and dentine-enamel junction in osteogenesis imperfecta.
Lindau BM, Dietz W, Hoyer I, Lundgren T, Storhaug K, Norén JG
Int J Paediatr Dent 1999 Mar;9(1):13-21. doi: 10.1046/j.1365-263x.1999.00101.x. PMID: 10336712

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
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

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
Maxillary cyst associated with an invaginated tooth: a case report and literature review.
Galindo-Moreno PA, Parra-Vázquez MJ, Sánchez-Fernández E, Avila-Ortiz GA
Quintessence Int 2003 Jul-Aug;34(7):509-14. PMID: 12946069
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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