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Dentinogenesis Imperfecta Type 1

DI I


Presentation

  • 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]
  • Both primary and permanent teeth present pulp obliteration. Patients with this form of DGI have no normal teeth. Sensorineural hearing loss has also been found in some patients.[orpha.net]
  • The numbered bands specify the location of the thousands of genes that are present on each chromosome.[rarediseases.org]
  • Opalescent Teeth are present in patients. Image Courtesy: www.nejm.org It is the most severe form of Osteogenesis Imperfecta in patients who have survived beyond the perinatal period.[juniordentist.com]
Infertility
  • It also causes infertility, abnormal body growth and reduced height. Oculodentodigital Dysplasia One of the rarest genetic tooth enamel diseases, oculodentodigital dysplasia, affects less than 1, 000 people worldwide.[whitebearlakedental.com]
Respiratory Disorders
  • disorders J98.9 Respiratory disorder, unspecified J99 Respiratory disorders in diseases classified elsewhere K00 Disorders of tooth development and eruption K00.1 Supernumerary teeth K00.2 Abnormalities of size and form of teeth K00.4 Disturbances in[icd10data.com]
Tinnitus
  • Several affected members of both families had symptoms of tinnitus, and one member of one family had balance problems.[findzebra.com]
Osteoporosis
  • 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]
  • More detailed information on them can be found in Pediatric Bone: Biology and Diseases, Glorieux et al, 2003 3. osteoporosis-pseudoglioma syndrome : severe form of OI that also causes blindness Cole-Carpenter syndrome : OI with craniosynostosis and ocular[radiopaedia.org]
  • Other rare types of osteogenesis imperfecta include: Osteoporosis-pseudoglioma Bruck-syndrome Cole-Carpenter syndrome. Complications of osteogenesis imperfecta: They are joint laxity, which causes chronic joint pain, deafness and brain compression.[geneticdisorders.info]
  • The phenotype of the probands overlapped Sillence lethal type II/severe type III osteogenesis imperfecta (see 166210 and 259440), with severe osteoporosis, shortened long bones, and a soft skull with wide open fontanel.[findzebra.com]

Treatment

  • 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]
  • The multidisciplinary approach would help to provide the optimal treatment outcome.[ijmdent.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Challenges are associated with root canal treatment of teeth affected by DI due to pulp chamber and root canal obliteration, or narrowing of such spaces.[en.wikipedia.org]

Prognosis

  • 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]
  • 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]
  • Adapted Sillence Classification of Osteogenesis Imperfecta (Open Table in a new window) Type Genetic Teeth Bone Fragility Bone Deformity Sclera Spine Skull Prognosis IA AD * Normal Variable but less severe than other types Moderate Blue 20% scoliosis[emedicine.staging.medscape.com]
  • Early diagnosis and treatment are therefore, fundamental, aiming at obtaining a favourable prognosis since late intervention makes treatment more complex.[jstage.jst.go.jp]
  • Prophylactic endodontic treatment if done can ensure the long-term prognosis. [7] Attempting to negotiate obliterated canals in dentinogenesis imperfecta can result in lateral perforation due to poorly mineralized dentin. [8] The objective of full mouth[ijmdent.com]

Etiology

  • 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 –DGI 1 CAUSED BY MUTATION IN THE DENTIN SIALO PHOSPHO PROTEIN( DSPP) gene ENCODING DENTIN PHOSPHOPROTEIN AND DENTIN SIALOPROTIEN 8.[slideshare.net]
  • The etiology and prevalence of the disorder, and a comprehensive treatment plan, will be briefly reviewed. Keywords: Dentin hypoplasia, dentinogenesis imperfecta How to cite this article: Subramaniam P, Mathew S, Sugnani S N.[jisppd.com]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • , optimizing esthetics,and preventing the common dental problems associated with caries and periodontal disease.[streetdirectory.com]
  • Preventive efforts can limit pathology occurring within the pulp, which may render future endodontic procedures less challenging, with better outcomes.[en.wikipedia.org]
  • 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]
  • It often requires a collaborative approach, with an orthodontist and a prosthodontist, for the completion of the entire dental restoration and prevention procedure.[medicalsubstance.com]

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