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Dentinogenesis Imperfecta Type 1 with Autosomal Dominant Deafness 39

Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1


  • Presents at preschool age (tarda). Hearing deficit in 50%.[orthobullets.com]
  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • Type IV osteogenesis imperfecta is similar to type III in presentation, but is less severe.[healio.com]
  • The clinical courses of the infants presented in this report raise several important points.[jmg.bmj.com]
  • Figure 2 X-rays of the presenting osteogenesis imperfecta patient.[dovepress.com]
  • Fayle SA, Duggal MS, Williams SA: Oral problems and the dentist's role in the management of paediatric oncology patients. Dent Update. 1992, 19: 152-156. 158–159 PubMed 61.[springermedizin.de]
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  • Other common features include ligamentous laxity, abnormal temperature regulation with episodic diaphoresis, easy bruisability of the skin, constipation, premature vascular calcification, and inappropriate euphoria.The defective collagen can also affect[osteodocjuan85.blogspot.com]
Dental Caries
  • It was suggested that the scalloping is beneficial for the mechanical properties of teeth as it reinforces the anchor between enamel and dentine. [4] However, the teeth are not more susceptible to dental caries than normal ones.[en.wikipedia.org]
Tooth Loss
  • Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre[springermedizin.de]
  • The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin.[uniprot.org]
  • This male patient was the product of a second-cousin union and in addition to fractures had delay in tooth eruption, normal hearing, and white sclerae.[emedicine.medscape.com]
  • Crawford PJM, Aldred MJ: Anomalies of tooth formation and eruption. Paediatric Dentistry. Edited by: Welbury RR, Duggal MS, Hosey MT. 2005, Oxford University Press, 316- 59. Crawford PJ, Aldred MJ: Regional odontodysplasia: a bibliography.[springermedizin.de]
  • Glorieux Elsevier, ٢٥‏/٠١‏/٢٠٠٥ - 1952 من الصفحات Vitamin D, a steroid hormone, has mainly been known for its effects on bone and osteoporosis.[books.google.com]
  • Skeletal and Articular Dysfunction Osteogenesis Imperfecta OI is the most common osteoporosis syndrome in children, characterized by excessive fractures and bone deformity.[memorize.com]
  • Radiographic assessment of the knees showed osteoporosis and severe bowing deformities of both femurs.[osteodocjuan85.blogspot.com]
  • Severe, generalized osteoporosis; Multiple fractures present at birth; Wormian bones; Large anterior fontanelle; Undermineralized calvarium; Scoliosis; Kyphosis; Codfish vertebrae; Protrusio acetabuli; Long bone deformity evident at birth or in the first[ibis-birthdefects.org]
Progressive Hearing Loss
  • Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001 Feb;27(2):201-4. Erratum in: Nat Genet 2001 Mar;27(3):345.[ghr.nlm.nih.gov]
  • A few families with type II have progressive hearing loss in addition to dental abnormalities. Also called hereditary opalescent dentin. [5] Type III: Brandywine isolate.[en.wikipedia.org]
  • Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y: Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001, 27: 201-204. 10.1038/84848.[springermedizin.de]
  • Conductive or mixed hearing loss occurs in about 50% of families, beginning in the late teens and leading, gradually, to profound deafness, tinnitus, and vertigo by the end of the fourth to fifth decade ... thin, easily bruised skin, joint hypermobility[ibis-birthdefects.org]
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  • *Most comprehensive, up-to-date two-volume set on Vitamin D *New chapters on squamous cell cancer, brain cancer, thyroid cancer and many more *Further sections on emerging uses for treatments of auto-immune diseases and diabetes *Over 600 illustrations[books.google.com]
  • Our last generation materials and techniques allow as providing a modern range of orthodontic, prosthetic, surgical treatment in collaboration with specialized German laboratories.[unidentart.md]
  • Treatment Treatment Options: Treatment has not been reported but corneal transplantation can restore vision in many cases.[disorders.eyes.arizona.edu]
  • 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]
  • Surgical treatment of osteogenesis imperfecta: current concepts.[healio.com]


  • His prognosis is somewhat guarded because of his predisposition to fractures.DISCUSSIONOsteogenesis imperfecta is an inherited mutation in one of two genetic loci coding for type I collagen—COL1A1and COL1A2.[osteodocjuan85.blogspot.com]


  • Cause and effect in these situations is difficult to prove and it is likely that keratoconus is an etiologically heterogeneous disorder. Only keratoconus associated with single gene mutations are considered here.[disorders.eyes.arizona.edu]
  • Etiology and Classification Although it was once thought that osteogenesis imperfecta was primarily due to abnormalities in the COL1A1 and COL1A2 genes encoding type I collagen, it has been shown that some patients with osteogenesis imperfecta do not[healio.com]


  • From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations;[ommbid.mhmedical.com]
  • Benli IT et al (1992) Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 74:504–506 PubMed Google Scholar 5.[link.springer.com]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep . 2007; 5(3):91–97. doi:10.1007/s11914-007-0023-z [CrossRef] Yao X, Carleton SM, Kettle AD, Melander J, Phillips CL, Wang Y.[healio.com]
Sex distribution
Age distribution


  • Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological[ommbid.mhmedical.com]
  • Pathophysiology and treatment. Clin Orthop Relat Res 294:64–78 PubMed Google Scholar 41. Karakida K et al (2010) Multiple giant cell tumors in maxilla and skull complicating Paget’s disease of bone.[link.springer.com]
  • Martin E, Shapiro JR: Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep. 2007, 5: 91-97. CrossRef PubMed 16.[springermedizin.de]
  • Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep . 2007; 5(3):91–97. doi:10.1007/s11914-007-0023-z [CrossRef] Yao X, Carleton SM, Kettle AD, Melander J, Phillips CL, Wang Y.[healio.com]


  • […] support limbs, prevent fractures, and aid in ambulation.[memorize.com]
  • Preventive efforts can limit pathology occurring within the pulp, which may render future endodontic procedures less challenging, with better outcomes.[en.wikipedia.org]
  • Allow parents to stay with their child at all times ... but the parent may be able to help with transferring the child or ensuring that safety precautions are used to prevent additional injury ...[ibis-birthdefects.org]
  • […] posterior spinal fusion indications for curves 45 in mild forms and 35 in severe forms technique challenging due to fragility of bones use allograft instead of iliac crest autograft due to paucity of bone ASF only indicated in very young children to prevent[orthobullets.com]
  • Shea-Landry and Cole6 suggest that one of the roles of a parent of a child with osteogenesis imperfecta is to help them resist participation in sports and prevent them from taking physical risks.[osteodocjuan85.blogspot.com]

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