Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults

Hald, Jannie Dahl; Folkestad, Lars; Andreassen, Christer S.; Wanscher, Jens Højberg; Schmidt, Morten; Gjørup, Hans; Haubek, Dorte; Leonhard, Christine; Larsen, Dorte Ancher; Hjortdal, Jesper; Harsløf, Torben; Dunø, Morten; Lund, Allan M.; Jensen, Jens–Erik Beck; Brixen, Kim; Langdahl, Bente

doi:10.1007/s00198-018-4663-x

Cited by 40 publications

(49 citation statements)

References 35 publications

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“…Conductive hearing loss was mostly presented in younger individuals, whereas mixed and sensorineural hearing loss were present across all ages (Kuurila et al, ; Swinnen et al, 2012). The more severe degrees of hearing loss were more prevalent in milder forms of OI (Hald et al, ); however, this finding contradicted Kuurila et al () who found no correlation between hearing loss degree and OI type. Similarly, Martens et al () and Swinnen et al (2012) found no correlation between OI type and occurrence of hearing loss (Martens et al ; Swinnen et al, 2012).…”

Section: Resultsmentioning

confidence: 93%

“…The OI type of six individuals was unknown (Kuurila et al, ; Kuurila et al, ; McAllion & Paterson, ; Wekre et al, ). Most of the studies did not report on OI genetic etiology of their participants, except for two (Hald et al, ; Martens et al, ). Two studies did not describe the clinical phenotype of their study sample ( n = 982; Folkestad et al, 2016; Ruiter‐Ligeti et al, ).…”

Section: Resultsmentioning

confidence: 99%

“…Control subjects (matched for age and sex) were also used by Hernandez et al () and Migliaccio et al (). Hald et al () used a myopic population to compare the corneal thickness of the OI sample ( n = 64). Ruiter‐Ligeti et al () compared births from women with and without OI.…”

Section: Resultsmentioning

confidence: 99%

“…Ruiter‐Ligeti et al () compared births from women with and without OI. However, in both cases, the controls were not matched based on age (Hald et al, ; Ruiter‐Ligeti et al, ) and/or sex (Hald et al, ).…”

Section: Resultsmentioning

confidence: 99%

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Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed‐methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included: hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow‐up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.

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Section: Resultsmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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“…A frequent dental abnormality in OI is dentinogenesis imperfecta, which is caused by dysplastic dentin and can lead to dental discoloration, tooth fracture, and attrition . Genotype–phenotype correlation studies show that the large majority of patients with OI types III and IV caused by qualitative mutations have dentinogenesis imperfecta, whereas only a small minority of individuals with COL1A1 haploinsufficiency mutations have dentinogenesis imperfecta that is visible on clinical inspection . Beyond dentinogenesis imperfecta, tooth agenesis is a common finding in OI .…”

Section: Other Disease Manifestationsmentioning

confidence: 99%

Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research

2019

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Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or COL1A2 . Mutations in at least 18 other genes can also lead to an OI phenotype. As genetic testing is more widely used, mutations in these genes are also more frequently discovered in individuals who have a propensity for fractures, but who do not have other typical clinical characteristics of OI. Intravenous bisphosphonate therapy is still the most widely used drug treatment approach. Preclinical studies in OI mouse models have shown encouraging effects when the antiresorptive effect of a bisphosphonate was combined with bone anabolic therapy using a sclerostin antibody. Other novel experimental treatment approaches include inhibition of transforming growth factor beta signaling with a neutralizing antibody and the inhibition of myostatin and activin A by a soluble activin receptor 2B. © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research

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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

Higuchi

Hasegawa

Futagawa

et al. 2021

Molec Gen & Gen Med

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Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults

Cited by 40 publications

References 35 publications

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

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