We present a case of DI III with an unusual presentation of rhizomegaly, dilacerations of the root, and taurodontism, seldom reported in the English literature for any genetic disorder of dentin. [saudijos.org]

Tooth retention was evaluated in 12/44, present in 2 individuals (17%), pulpal obliteration, evaluated in 24/44 and present in 24 (100%). [ojrd.biomedcentral.com]

Presents at preschool age (tarda). Hearing deficit in 50%. [orthobullets.com]

At present, there is no effective therapy. The present report presents the case of a 15-year-old Chinese male with OI type I. Informed consent was obtained from the patient. [spandidos-publications.com]

The generalized color of the teeth present had opalescent brown hue with worn incisal and occlusal facets [Figure 1]. [ijdr.in]

• Periodontitis

  Treatment objectives and plan Integrated conservative, orthodontic, periodontal, and prosthodontic treatment objectives were established as shown in Table I. [pocketdentistry.com]

  The periodontal condition was found to be sound with satisfactory oral hygiene. Based on the clinical examination and radiographic findings a diagnosis of dentinogenesis imperfecta was made. [ijmdent.com]

  […] preventing severe attrition associated with enamel loss and rapid wear of the poorly mineralized dentin, rehabilitating dentitions that have undergone severe wear, optimizing esthetics,and preventing the common dental problems associated with caries and periodontal [streetdirectory.com]

  象牙質形成不全症 ICD-11 による疾患分類 [BR: jp08403 ] 20 Developmental anomalies Structural developmental anomalies primarily affecting one body system Structural developmental anomalies of the face, mouth or teeth LA30 Structural developmental anomalies of teeth and periodontal [genome.jp]

  With continuous restorative, orthodontic and periodontal restoration, however, the teeth can end up looking normal and remain functional throughout the life of the individual. These dental treatments are expensive and require huge dedication. [rarediseases.org]

• Progressive Hearing Loss

  A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta. [medlineplus.gov]

  A few families with type II have progressive hearing loss in addition to dental abnormalities. Type III dentinogenesis imperfecta was first identified in a population from Brandywine, Maryland. [wikidoc.org]

  hearing loss is associated with distinct mutations in DSPP. 62 5 Xiao S...Kong X 11175790 2001 7 Six generations of hereditary opalescent dentin: report of case. 62 57 Giansanti JS...Budnick SD 1053785 1975 8 A novel mutation in the DSPP gene associated [malacards.org]

  Frequent fractures, short stature, a blue hue to the white part of the eye (blue sclera), teeth problems (dentinogenesis imperfecta) and hearing loss that progresses after puberty may be present. X-rays are also used to diagnose OI. [genome.gov]

• Hearing Impairment

  The physical examination demonstrated blue sclera, hypermobility of the joints, a triangular-shaped face and no hearing impairment or DI. [spandidos-publications.com]

  One individual reported hearing impairment (3%) and one examined individual was found to have a scleral hue deviating toward blue or blue-grey tones (3%). [ojrd.biomedcentral.com]

  Many affected infants die in the neonatal period; additional problems identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment. [ncbi.nlm.nih.gov]

• Osteoporosis

  The radiological images revealed osteoporosis and although the clinical features indicated a diagnosis of OI, juvenile idiopathic osteoporosis was also considered to be an alternative diagnosis. [spandidos-publications.com]

  Abnormal collagenous maturation results in bone with a thin Cortex, fine trabeculation and diffuse osteoporosis. [juniordentist.com]

  Fractures tend to decrease in frequency after puberty, but their frequency may increase later in life when age- and sex-related osteoporosis is superimposed. Over a lifetime, numbers of fractures can range from one to 60 or more. [emedicine.staging.medscape.com]

  […] heads and round faces cases of OI type VIII are similar to OI types II or III in appearance and symptoms except for white sclerae Additional forms of OI The following conditions are rare, but they feature fragile bones plus other significant symptoms 5: osteoporosis-pseudoglioma [radiopaedia.org]

• Bone Pain

  Treatment with bisphosphonates is aimed at increasing bone density and decreasing bone pain and fracture risk ( 1 ). [merckmanuals.com]

  Significantly improves the disease type III, IV by decreasing the frequency of fractures, increasing bone density, decreased bone pain and increase height. [geneticdisorders.info]

  The bone fragility may lead to joint hyperlaxity, muscle weakness, chronic unremitting bone pain, and skull deformities (eg, posterior flattening). In utero fractures are common. [emedicine.staging.medscape.com]

  The patient did not experience bone pain, limb and joint deformities or muscle weakness. [spandidos-publications.com]

  He also complained of pain in multiple teeth. His medical records were noncontributory. There was no history of any bone pain, fracture, or history of hospitalization in the past or present. The general physical evaluation was noncontributory. [saudijos.org]

• Suggestibility

  Suggested Listings for Evaluation: DETERMINATION LISTING REMARKS Meets 110.08 A Catastrophic congenital disorder Equals * Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. [secure.ssa.gov]

  We suggest the use of FD Telescopic rod in all of patients with age more than 5 years and who have medullary canal which could allow the insertion of the rod 5. [giot.it]

  It was suggested that a defect in COL1A1 affected not only dentin, but also enamel during tooth germ development. [oatext.com]

  This clear difference in the tubules number per unit area suggests that the OIDI dentin is much denser than the control dentin. [dovepress.com]

  These authors reported initial functional studies suggesting the c.202A>T-mutated DSPP was retained in the endoplasmic reticulum of odontoblasts. [karger.com]

• Asthenia

  The main side effects observed during the infusion were abdominal pain, polyarthralgia and asthenia (1 patient), chest pain (1 patient) and fever and chills (1 patient). [ard.bmj.com]

The multidisciplinary approach would help to provide the optimal treatment outcome. [ijmdent.com]

Treatment objectives and plan Integrated conservative, orthodontic, periodontal, and prosthodontic treatment objectives were established as shown in Table I. [pocketdentistry.com]

Type II dentinogenesis imperfecta is an autosomal dominant genetic condition that affects dentin which increases the complexity of the predictability of restorative treatment. [prosthodontics.org]

Treatment of Dentinogenesis Imperfecta in Children Picture 2 – Dentinogenesis imperfecta Image There are published cases of treatment of this disorder in children. [medicalsubstance.com]

At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition. [healthline.com]

Prognosis Prognosis depends primarily on the age of diagnosis and the quality of management. Early diagnosis and regular dental care cannot always prevent premature tooth loss. [orpha.net]

Early diagnosis and treatment are therefore, fundamental, aiming at obtaining a favourable prognosis since late intervention makes treatment more complex. [jstage.jst.go.jp]

Although pulpal pathosis is rarely reported with dentinogenesis imperfecta, endodontic treatment is occasionally necessary and has a guarded prognosis if initiated after pulp canal obliteration has occurred. [streetdirectory.com]

The earlier diagnosis and the opportune and multidisciplinary treatment, led to improve the prognosis. REFERENCES Guideline on Dental Management of Heritable Dental Developmental anomalies. Originating Council Council on Clinical Affairs. [medigraphic.com]

An early diagnosis and treatment are therefore fundamental, which aim at obtaining a favorable prognosis, since a late intervention makes the treatment more complex. Financial support and sponsorship Nil. [ijdr.in]

Etiology OI type I is caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively). Genetic counseling Transmission is autosomal dominant. [orpha.net]

etiology of DI to DEJ and follow Shields classification. [jomfp.in]

ETIOLOGY –DGI 1 CAUSED BY MUTATION IN THE DENTIN SIALO PHOSPHO PROTEIN( DSPP) gene ENCODING DENTIN PHOSPHOPROTEIN AND DENTIN SIALOPROTIEN 8. [de.slideshare.net]

Summary Epidemiology The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type I is unknown. [orpha.net]

In addition, the absence of wide epidemiological studies in the literature and the variation of small studies results make it difficult to compare and analyze the obtained results with reference values. [jispcd.org]

Epidemiology Incidence is approximately 1/15,000-1/20,000 live births but this may be underestimated, as milder forms can evade diagnosis [ 7 ]. It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia. [patient.info]

Mutations can also be caused by CRTAP or PH3H1(LEPRE1) in an autosomal recessive pattern. [14] Pathophysiology The pathophysiology of osteogenesis imperfecta is primarily due to a dysfunction in collagen and is classified under connective tissue diseases [eyewiki.aao.org]

However, in the past 10 years discoveries of further (mainly recessive) causative genes have lent support to a predominantly collagen-related pathophysiology [ 1 ]. [patient.info]

Osteogenesis Imperfecta: pathophysiology and treatment. Wien Med Wochenschr 2015; 165(13-14): 278-284. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16(2):101-16. [biolifesas.org]

Osteogenesis imperfecta: Pathophysiology and treatment. Wien. Med. Wochenschr. 2015, 165, 278–284. [Google Scholar] [CrossRef] [PubMed] Fratzl-Zelman, N.; Misof, B.M.; Roschger, P.; Klaushofer, K. Classification of osteogenesis imperfecta. Wien. [mdpi.com]

The pathophysiology for OI type I is characterized by mutations in the genes for proα1 chains on COL1A1 on chromosome 17 or for proα2 chains on COL1A2 on chromosome 7 [4]. [journalimplantdent.springeropen.com]

The early diagnosis and appropriate treatment is of paramount significance to prevent psychological and functional morbidity to the patient. [ijmdent.com]

optimizing esthetics,and preventing the common dental problems associated with caries and periodontal disease. [streetdirectory.com]

The early diagnosis and management of dentinogenesis imperfecta helps prevent further damages to the teeth and improves the esthetics. [icliniq.com]

A mutation in any one of these genes can prevent it from making the correct protein, leading to enamel that is thin or soft. [healthline.com]

In conclusion, the authors provided adequate treatment eliminating caries, restoring function and using preventive measures to improve the oral hygiene of the proband and the follow-up to prevent or to treat potential alterations related to DI-II. [scielo.br]