Oral-Facial Aspects of Osteogenesis Imperfecta

Retrouvey, Jean-Marc; Schwartz, Steven O.; Hartsfield, James K.

doi:10.1016/b978-0-12-397165-4.00033-2

Cited by 11 publications

(25 citation statements)

References 58 publications

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“…Up to 50 % of adults with OI have dentogenesis imperfecta [ 6 ] yet approximately one-third of our respondents reported no regular dental care, and 74 % expressed current QoL concerns regarding their dental health. An important future research direction should include a more in-depth analysis of dental care in OI to establish whether adults with OI have difficulty gaining access to dental care or whether there is another explanation for this shortfall.…”

Section: Discussionmentioning

confidence: 99%

“…While the cardinal clinical manifestation of OI is fracture [ 2 ], deficiencies in collagen-rich tissues other than bone can lead to abnormal dentition [ 6 ], joint laxity [ 7 , 8 ], hearing loss [ 9 ], ocular disease [ 10 ], pulmonary [ 2 ], and vascular and valvular heart disease [ 11 ]. Disease severity ranges from perinatal death to minimally symptomatic forms that escape detection into adulthood [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

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Initial report of the osteogenesis imperfecta adult natural history initiative

Tosi

Oetgen

Floor

et al. 2015

Orphanet J Rare Dis

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BackgroundA better understanding of the natural history of osteogenesis imperfecta (OI) in adulthood should improve health care for patients with this rare condition.MethodsThe Osteogenesis Imperfecta Foundation established the Adult Natural History Initiative (ANHI) in 2010 to give voice to the health concerns of the adult OI community and to begin to address existing knowledge gaps for this condition. Using a web-based platform, 959 adults with self-reported OI, representing a wide range of self-reported disease severity, reported symptoms and health conditions, estimated the impact of these concerns on present and future health-related quality of life (QoL) and completed a Patient-Reported Outcomes Measurement Information System (PROMIS®) survey of health issues.ResultsAdults with OI report lower general physical health status (p < .0001), exhibit a higher prevalence of auditory (58 % of sample versus 2–16 % of normalized population) and musculoskeletal (64 % of sample versus 1–3 % of normalized population) concerns than the general population, but report generally similar mental health status. Musculoskeletal, auditory, pulmonary, endocrine, and gastrointestinal issues are particular future health-related QoL concerns for these adults. Numerous other statistically significant differences exist among adults with OI as well as between adults with OI and the referent PROMIS® population, but the clinical significance of these differences is uncertain.ConclusionsAdults with OI report lower general health status but are otherwise more similar to the general population than might have been expected. While reassuring, further analysis of the extensive OI-ANHI databank should help identify areas of unique clinical concern and for future research. The OI-ANHI survey experience supports an internet-based strategy for successful patient-centered outcomes research in rare disease populations.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0362-2) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Initial report of the osteogenesis imperfecta adult natural history initiative

Tosi

Oetgen

Floor

et al. 2015

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…Others summarize the craniofacial morphology of OI type I patients as “almost normal craniofacial development... with a tendency for a slight decrease in the size of the jaws but still within normal variation” [ 5 ]. In contrast, numerous abnormal craniofacial findings are detected in OI type III and IV patients [ 5 ]. A reduction in the external shape of hard tissue in OI patients can also affect the teeth.…”

Section: Discussionmentioning

confidence: 99%

“…Osteogenesis imperfecta (OI) is a collective term for a group of rare diseases that affect the constitution and metabolism of bone [ 1 ], [ 2 ], [ 3 ], [ 4 ] and, in many cases, also the teeth [ 5 ]. The majority of patients with OI are subject to a disease that complies with the rules of autosomal dominant inheritance [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

“…Alterations in the shape of teeth and structure of the hard tissues of teeth have also been demonstrated for a subset of OI patients. This condition is denoted as dentinogenesis imperfecta (DI) (in OI) [ 5 ], [ 12 ], [ 13 ], [ 14 ], [ 15 ], [ 16 ]. Patients with OI may also have further developmental disorders of tissues (e.g., vascular, muscular or ocular symptoms and findings) [ 1 ], [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

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The effect of bisphosphonate medication on orthodontics and orthognathic surgery in patients with osteogenesis imperfecta

Friedrich

Scheuer²,

Höltje

2019

GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW; 8:Doc06

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Dental tissue changes in juvenile and adult mice with osteogenesis imperfecta

Moore,

Husain,

Huston

et al. 2023

The Anatomical Record

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Osteogenesis imperfecta (OI), a disorder of type I collagen, causes skeletal deformities as well as defects in dental tissues, which lead to increased enamel wear and smaller teeth with shorter roots. Mice with OI exhibit similar microstructural dentin changes, including reduced dentin tubule density and dentin cross‐sectional area. However, the effects of these mutations on gross dental morphology and dental tissue volumes have never been characterized in the osteogenesis imperfecta murine (OIM) mouse model. Here we compare mineralized dental tissue measurements of OIM mice and unaffected wild type (WT) littermates at the juvenile and adult stages. The maxillary and mandibular incisors and first molars were isolated from microCT scans, and tissue volumes and root length were measured. OIM mice have smaller teeth with shorter roots relative to WT controls. Maxillary incisor volumes differed significantly between OIM and WT mice at both the juvenile and young adult stage, perhaps due to shortening of the maxilla itself in OIM mice. Additionally, adult OIM mice have significantly less crown enamel volume than do juveniles, potentially due to loss through wear. Thus, OIM mice demonstrate a dental phenotype similar to humans with OI, with decreased tooth size, decreased root length, and accelerated enamel wear. Further investigation of dental development in the OIM mouse may have important implications for the development and treatment of dental issues in OI patients.

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Oral-Facial Aspects of Osteogenesis Imperfecta

Cited by 11 publications

References 58 publications

Initial report of the osteogenesis imperfecta adult natural history initiative

Initial report of the osteogenesis imperfecta adult natural history initiative

The effect of bisphosphonate medication on orthodontics and orthognathic surgery in patients with osteogenesis imperfecta

Dental tissue changes in juvenile and adult mice with osteogenesis imperfecta

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