Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients Caregivers Providers
Log In Ask a Question
PubMed This is a summary of 16 peer-reviewed journal articles Updated
Dentistry

Diagnostics, Radiographs, and Genetic Testing for DI

At a Glance

Dentinogenesis imperfecta (DI) is diagnosed through clinical exams, dental X-rays, and genetic testing. X-rays reveal key signs like bulbous crowns and filled-in pulp chambers. Genetic testing identifies specific gene mutations to confirm if DI is isolated or linked to brittle bone disease.

Getting a definitive diagnosis for Dentinogenesis Imperfecta (DI) is a multi-step process. It moves from what a dentist sees during a visual exam, to what is hidden inside the roots on X-rays, and finally to what is written in your DNA [1][2]. Understanding your diagnostic records can help you feel more in control of the long-term treatment plan [3].

Deciphering the Dental X-Rays

When a dentist looks at X-rays of a mouth with DI, they are looking for specific structural “signatures” that are not visible to the naked eye [2]. You may hear your dental team use these clinical terms:

  • Bulbous Crowns: The top part of the tooth (the crown) may look unusually round, bell-shaped, or “fat” compared to the root. This happens because the tooth narrows sharply where it meets the gum line, a feature known as narrowed gum lines (cervical constriction) [4][5].
  • Obliterated Pulp Chambers: This is one of the most common signs of DI. In a typical healthy tooth, the center is hollow and filled with nerves and blood vessels (the pulp). In DI, the tooth overproduces abnormal dentin until that hollow space is completely filled in, or “obliterated” [5][3]. On an X-ray, these teeth look solid white or gray inside instead of having a dark, hollow center [2].
  • Shell Teeth: Less commonly (usually in Shields Type III), the exact opposite happens. The pulp chambers look abnormally massive, and the dentin walls look paper-thin, resembling a fragile hollow shell [6][7].

The Role of Genetic Testing

While a dentist can often diagnose DI clinically just by looking at the teeth and X-rays, genetic testing provides the vital “why” behind the condition [8].

The primary reason to pursue genetic testing is to definitively determine if the DI is isolated or syndromic [9].

  • Isolated DI: Usually caused by a mutation in the DSPP gene [10]. This confirms that the condition only affects the teeth.
  • Syndromic DI: Often caused by mutations in the COL1A1 or COL1A2 genes [11]. These mutations affect collagen, the structural “glue” that holds the body together, and are directly linked to Osteogenesis Imperfecta (brittle bone disease) [9].

Knowing exactly which gene is involved tells your care team if they need to check for other systemic health issues, such as bone density problems or early-onset hearing loss [12][13].

Completeness Checklist: The Diagnostic Workup

A thorough diagnostic process ensures nothing is missed. You can use this checklist to ensure your care team completes a comprehensive workup:

  • [ ] Clinical Examination: A physical check of tooth color, wear patterns, and enamel stability [14].
  • [ ] Radiographic Review: Taking X-rays (and sometimes 3D imaging) to check for pulp obliteration, root shape, and signs of hidden abscesses [5][15].
  • [ ] Family History: A detailed discussion of any blood relatives with similar dental issues or frequent bone fractures [1].
  • [ ] Physical Screening: A check for “blue sclera” (a distinct bluish tint to the whites of the eyes), which can be a strong indicator of the syndromic form linked to OI [2][16].
  • [ ] Genetic Consultation: A referral to a specialist to discuss DNA testing for the DSPP and collagen gene mutations [1][8].
  • [ ] Specialist Coordination: If the syndromic form is suspected or confirmed, establishing referrals to an orthopedist or endocrinologist to monitor bone health [12][13].

A clinical diagnosis (based on appearance and X-rays) tells the dentist what is happening right now, but genetic confirmation (based on DNA) explains the cause and helps predict your or your child’s future health risks [1][8].

Common questions in this guide

What do dentists look for on X-rays to diagnose Dentinogenesis Imperfecta?
Dentists look for specific structural signs like bulbous or bell-shaped crowns and obliterated pulp chambers. In a healthy tooth, the center is hollow, but in DI, abnormal dentin fills this space completely, making it look solid white or gray on an X-ray.
Why is genetic testing important for Dentinogenesis Imperfecta?
Genetic testing determines if the condition only affects the teeth (isolated DI) or if it is linked to a systemic disorder like osteogenesis imperfecta. Identifying the exact gene mutation helps your care team anticipate and monitor for other health risks, such as bone fragility.
What does it mean if my genetic test shows a DSPP gene mutation?
A mutation in the DSPP gene typically indicates isolated Dentinogenesis Imperfecta. This means the condition primarily affects the structure of the teeth and is not usually linked to broader connective tissue or bone density issues.
What are shell teeth in a dental diagnosis?
Shell teeth are a less common presentation of Dentinogenesis Imperfecta where the pulp chambers are abnormally massive and the dentin walls are extremely thin. This makes the teeth resemble fragile, hollow shells on an X-ray.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Can you show me on the X-rays where the 'bulbous crowns' and 'pulp obliteration' are visible?
  2. 2.Do the roots of these teeth appear strong enough to support long-term crowns?
  3. 3.Should we order a genetic panel specifically looking at the DSPP, COL1A1, and COL1A2 genes?
  4. 4.If the genetic results show a collagen mutation, do we need a referral to an orthopedist or a medical geneticist right away?
  5. 5.Based on the X-rays, do we have the 'shell teeth' variant, and if so, how does that change our timeline for intervention?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (16)
  1. 1

    [Genetic variants analysis and histological observation of teeth in a patient with hereditary opalescent dentin].

    Li F, Liu Y, Liu HC, Feng HL

    Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2018; (50(4)):666-671.

    PMID: 30122769
  2. 2

    Novel frameshift mutations in DSPP cause dentin dysplasia type II.

    Lee JW, Hong J, Seymen F, et al.

    Oral diseases 2019; (25(8)):2044-2046 doi:10.1111/odi.13182.

    PMID: 31454439
  3. 3

    Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

    Monteiro J, Balmer R, Lafferty F, et al.

    European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2024; (25(1)):85-91 doi:10.1007/s40368-023-00859-2.

    PMID: 38308725
  4. 4

    Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families.

    Taleb K, Lauridsen E, Daugaard-Jensen J, et al.

    Molecular genetics & genomic medicine 2018; (6(3)):339-349 doi:10.1002/mgg3.375.

    PMID: 29512331
  5. 5

    A novel approach to full-mouth rehabilitation of dentinogenesis imperfecta type II: Case series with review of literature.

    Zhang Y, Jin X, Zhang Z, et al.

    Medicine 2024; (103(4)):e36882 doi:10.1097/MD.0000000000036882.

    PMID: 38277536
  6. 6

    Combined endodontic therapy and peri-radicular regenerative surgery in the treatment of dens invaginatus type III associated with apicomarginal defect.

    Sharma S, Wadhawan A, Rajan K

    Journal of conservative dentistry : JCD 2018; (21(6)):696-700 doi:10.4103/JCD.JCD_311_18.

    PMID: 30546221
  7. 7

    [Progress in the classification of hereditary dentin disorders and clinical management strategies].

    Yuan GH, Chen Z

    Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 2023; (58(4)):305-311 doi:10.3760/cma.j.cn112144-20230210-00041.

    PMID: 37005776
  8. 8

    Dentinogenesis imperfecta type II in Swedish children and adolescents.

    Andersson K, Malmgren B, Åström E, Dahllöf G

    Orphanet journal of rare diseases 2018; (13(1)):145 doi:10.1186/s13023-018-0887-2.

    PMID: 30134932
  9. 9

    A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.

    Udomchaiprasertkul W, Kuptanon C, Porntaveetus T, Shotelersuk V

    European journal of medical genetics 2020; (63(6)):103896 doi:10.1016/j.ejmg.2020.103896.

    PMID: 32081708
  10. 10

    Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

    Hassib NF, Mehrez M, Mostafa MI, Abdel-Hamid MS

    Clinical oral investigations 2024; (28(5)):254 doi:10.1007/s00784-024-05636-z.

    PMID: 38630328
  11. 11

    Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

    Yamaguti PM, de La Dure-Molla M, Monnot S, et al.

    Journal of dental research 2023; (102(6)):616-625 doi:10.1177/00220345231154569.

    PMID: 36951356
  12. 12

    Dentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children.

    Nguyen HTT, Vu DC, Nguyen DM, et al.

    Dentistry journal 2021; (9(5)) doi:10.3390/dj9050049.

    PMID: 33925433
  13. 13

    Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.

    Jovanovic M, Guterman-Ram G, Marini JC

    Endocrine reviews 2022; (43(1)):61-90 doi:10.1210/endrev/bnab017.

    PMID: 34007986
  14. 14

    Early Rehabilitation of Incisors with Dentinogenesis Imperfecta Type II - Case Report.

    Beltrame AP, Rosa MM, Noschang RA, Almeida IC

    The Journal of clinical pediatric dentistry 2017; (41(2)):112-115 doi:10.17796/1053-4628-41.2.112.

    PMID: 28288297
  15. 15

    A Novel Diagnostic and Treatment Approach to an Unusual Case of Dens Invaginatus in a Mandibular Lateral Incisor Using CBCT and 3D Printing Technology.

    LaLonde L, Askar M, Paurazas S

    Dentistry journal 2024; (12(4)) doi:10.3390/dj12040107.

    PMID: 38668019
  16. 16

    A case of multiple rootless teeth: A case report and review.

    Gopalakrishnan S, Balasubramaniam N, Ramamoorthi R, Vedachalam R

    Journal of oral and maxillofacial pathology : JOMFP 2021; (25(3)):559 doi:10.4103/jomfp.jomfp_337_20.

    PMID: 35281176

This page explains the diagnostic process and genetic testing for Dentinogenesis Imperfecta for educational purposes. Always consult a geneticist or specialized dentist to interpret your specific X-rays and genetic test results.

Get notified when new evidence is published on Dentinogenesis imperfecta.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.