AtlasDevelopmentalDentinogenesis Imperfecta

Developmental Disorders

Dentinogenesis Imperfecta

aka DI · Hereditary Opalescent Dentin · Capdepont Teeth

Autosomal dominant disorder of dentin causing opalescent, amber-discoloured teeth prone to fracture.

Inheritance
Autosomal dominant
Gene
DSPP (Types II/III)
Radiograph
Obliterated pulp, short roots

§ figuresFigures (1)

Fig. 1Panorex radiograph from a patient with dentinogenesis imperfecta

“Panorex radiograph from a patient with dentinogenesis imperfecta” · see above · CC BY 2.0 · Wikimedia Commons

Verified open-access images only, reproduced for education under their stated licences · no AI-generated or illustrative artwork · Dentinogenesis Imperfecta figures pending faculty review.

§ overviewOverview

Heritable dentin defect due to DSPP gene mutation affecting both dentitions.

§ icdICD Classification

K00.5

§ etiologyEtiology

  • 01Mutation in DSPP gene (chromosome 4q21)
  • 02Autosomal dominant

§ epidemiologyEpidemiology

1:6,000 to 1:8,000 live births.

§ pathogenesisPathogenesis

Defective dentin sialophosphoprotein → disorganised collagen matrix and poor mineralisation → weak dentin.

§ clinicalClinical Features

  • 01Opalescent blue-grey or amber teeth
  • 02Bulbous crowns, cervical constriction
  • 03Rapid attrition with flat occlusal surfaces
  • 04Primary teeth more affected than permanent

§ differentialDifferential Diagnosis

  • 01Amelogenesis imperfecta
  • 02Dentin dysplasia
  • 03Tetracycline staining
  • 04Regional odontodysplasia

§ histopathHistopathology

  • 01Irregular, disorganised dentinal tubules
  • 02Abnormal predentin layer

§ radiographicRadiographic Features

  • 01Obliterated pulp chambers and root canals
  • 02Short, constricted roots
  • 03Periapical radiolucencies (asymptomatic)

§ investigationsInvestigations

  • 01Clinical + radiographic
  • 02Family history
  • 03Genetic testing

§ classificationClassification

  • 01Type I — associated with osteogenesis imperfecta
  • 02Type II — isolated (Shields type II)
  • 03Type III — Brandywine isolate (shell teeth)

§ treatmentTreatment

  • 01Stainless steel crowns (deciduous)
  • 02Full-coverage restorations
  • 03Overdentures
  • 04Implants after growth

§ complicationsComplications

  • 01Severe attrition
  • 02Spontaneous pulp exposure
  • 03Periapical pathology

§ prognosisPrognosis

Good with early intervention; lifelong restorative needs.

§ examKey Examination Points

  • 01Type I always with OI; Types II/III without OI
  • 02Pulp obliteration on radiograph is key
  • 03Enamel chips away due to poor DEJ support

§ revisionQuick Revision Summary

  • 01DSPP mutation
  • 02Bulbous crown, cervical constriction
  • 03Obliterated pulp on OPG

§ vivaBDS Viva Questions

  • 01What is the genetic basis of DI?
  • 02How does DI differ from DD?
  • 03Describe radiographic features of DI.

§ mcqsMCQs — Assessment (3)

Question 1

Which gene is mutated in isolated DI?

Question 2

DI Type I is associated with:

Question 3

Radiographic hallmark of DI:

§ evidenceReferences & Evidence

Current Classification

WHO Classification of Tumours Online — Head and Neck

IARC / WHO · 2022

Continuously updated online edition of the WHO head and neck tumour classification.

View official source

Evidence summary

Highest level of evidence linked to this page: WHO / Official Classification.

  • L1 · Classification — 1
  • L6 · Textbook — 3

1 linked source was published from 2024 onwards. Where guidance is limited or contested, rely on the higher-level sources above rather than this summary. Educational use only — not a substitute for clinical judgement.

Content last reviewed

September 2026

Evidence last reviewed

September 2026

Next scheduled review

September 2027

Review status

EVIDENCE REVIEWED

Search latest PubMed evidence

Last literature search: 7 September 2026

Open PubMed

Current Classification

Reference #1L1 · ClassificationWHO / Classification Verified
WHO Classification of Tumours Online — Head and Neck

IARC / WHO. IARC · 2022

Continuously updated online edition of the WHO head and neck tumour classification.

DOI: Identifier not availablePMID: Identifier not available
View source

Histopathology References

Reference #4L6 · TextbookHistopathology References Unverified
Surgical Pathology of the Head and Neck3rd Edition

Barnes L. CRC Press · 2008

Detailed histopathological reference for head and neck diagnostic criteria.

DOI: Identifier not availablePMID: Identifier not available

Textbook References

Reference #2L6 · TextbookTextbooksRecent Verified
Oral and Maxillofacial Pathology5th Edition

Neville BW, Damm DD, Allen CM et al.. Elsevier · 2024

Standard reference textbook of oral and maxillofacial pathology used throughout this atlas.

DOI: Identifier not availablePMID: Identifier not available
View source
Reference #3L6 · TextbookTextbooks Unverified
Shafer's Textbook of Oral Pathology9th Edition

Rajendran R, Sivapathasundharam B. Elsevier · 2020

Undergraduate and postgraduate oral pathology textbook widely used in BDS and FCPS curricula.

DOI: Identifier not availablePMID: Identifier not available

Additional sources cited on this page

  1. Shields ED. Birth Defects 1973;9:107
  2. Neville BW. Oral & Maxillofacial Pathology, 4e

Browse the full evidence library →

Draft — pending faculty review. Educational use only; verify against current guidelines and primary sources before clinical application.