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]

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]

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

Radiographical presentation Thistle-tube deformity of the pulp chamber of the permanent teeth and frequent pulp stones. [pocketdentistry.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]

• Falling

  Type I is the mildest form of OI and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of OI. [secure.ssa.gov]

  A 15-year-old male patient was admitted to hospital having experienced repeated fractures over the previous three years, predominantly due to falling down or overexertion. [spandidos-publications.com]

  […] severe and rapid attrition. [2] Originally, it was believed that a defective dentinoenamel junction (DEJ) was resulting in chipping of enamel, but scanning electron microscopic studies have disclosed a normal junction. [10] The enamel does not actually fall [jomfp.in]

  Children learn balance skills to prevent falls, and gain muscle strength and endurance. For an older child, there may be anxieties about walking and running. Working with an experienced therapist will get your child moving and keep them moving. [childrensortho.com]

  […] severe and rapid attrition.[2] Originally, it was believed that a defective dentinoenamel junction (DEJ) was resulting in chipping of enamel, but scanning electron microscopic studies have disclosed a normal junction.[10] The enamel does not actually fall [ncbi.nlm.nih.gov]

• Asymptomatic

  In addition, complications can include transient asymptomatic hypocalcemia and symptomatic hypocalcemia. [1][2] Surgical treatment Fractures in OI patients should be treated similarly to children and adults without OI. [eyewiki.aao.org]

  Somatic mosaicism for variants that result in lethal OI can produce a mild OI phenotype if the variant is present in the majority of somatic cells; otherwise, the mosaicism is generally asymptomatic. [ncbi.nlm.nih.gov]

• Severe Pain

  The dental pulp in the root canal is where all of the tooth nerves are located, and the exposed sensitive dentin typically leads to continuous severe pain. The psychological trauma of patients with AI cannot be overlooked. [rarediseases.org]

• Tooth Loss

  Early diagnosis and regular dental care cannot always prevent premature tooth loss. The documents contained in this web site are presented for information purposes only. [orpha.net]

  In addition to changing your teeth's appearance, DI can make the teeth weaker than usual and, therefore, more prone to damage, fractures, wear, and tooth loss. 3 Types of Dentinogenesis Imperfecta There are three types of DI: Type I DI occurs in people [colgate.com]

  Dental Treatment: Due to the presence of Opalescent Dentin there is presence of severe Attrition and consequent Tooth loss is seen. [juniordentist.com]

  If the dentin becomes abnormal, teeth become weaker and are prone to rapid wear, breakage and tooth loss. Approximately 30% of all children with OI have significant dental issues. Teeth may appear brown as the enamel wears away. [childrensortho.com]

  Fig. 7.1 Photographs and an OPG of a patient with type II dentinogenesis imperfecta showing amber primary and permanent teeth with tooth surface loss (enamel fracture and attrition of underlying dentin). [pocketdentistry.com]

• Tooth Discoloration

  Clinically, DI teeth are associated with esthetic problems resulting from tooth discoloration, especially in the primary dentition. [oatext.com]

  (A) Frontal, right lateral, and left lateral view of teeth showing tooth discoloration in proband II-1. (B) Magnified photos of tooth #8 and 11 with a red dotted line showing demarcation of the restoration on #8. [frontiersin.org]

  Affected patients show tooth alterations, but do not exhibit any bone anomalies. Both deciduous and permanent teeth are affected, appearing discolored and translucent. [karger.com]

  A tentative diagnosis of DI was made based on a positive family history of tooth discoloration, clinical findings of generalized grayish discoloration of teeth, and generalized attrition. Written consent from the patient was sought for radiographs. [saudijos.org]

• Premature Loss of Teeth

  It is characterized by opalescent primary teeth but normally colored secondary teeth. DD type I involved short roots or rootless teeth and is associated with premature loss of teeth. [blueprintgenetics.com]

  Other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. Most patients have normal intelligence. [findzebra.com]

• 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]

• Short Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. [rarediseases.org]

  Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. 2002 Jul. 31 (1):19-25. [QxMD MEDLINE Link]. Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, et al. [emedicine.medscape.com]

• Confusion

  The etiology and classification followed in literature is confusing since dentinoenamel junction (DEJ) in DI seems to be structurally and functionally normal and DI is clearly a disorder distinct from osteogenesis imperfecta (OI), but we still relate [pubmed.ncbi.nlm.nih.gov]

• 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]

• Agitation

  The patient had very agitated behavior, but no embarrassment because of dental aesthetics. However, the mother reported that he complained about his appearance. [revodonto.bvsalud.org]

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

Severe cases of dentinogenesis imperfecta require two treatment stages which are to be performed under general anesthesia, and moderate cases of dentinogenesis imperfecta require minimal treatment. [icliniq.com]

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

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 efficient stomatognathic system was restored aiming at establishing a more favorable prognosis for such a complex anomaly. 1. Tahmassebi JF, Day PF, Toumba KJ, Andreadis GA. Paediatric dentistry in the new millennium: 6. [jisppd.com]

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

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

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