Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Lower risk of hip fractures among Swedish women with large hips?

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Predicting mortality and incident immobility in older Belgian men by characteristics related to sarcopenia and frailty

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Comparison of two automated assays of BTM (CTX and P1NP) and reference intervals in a Danish population

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Vertebral fracture assessment by dual X-ray absorptiometry: reply to comments by Fechtenbaum et al

    Research output: Contribution to journalComment/debateResearchpeer-review

  1. Low versus High Carbohydrate Diet in Type 1 Diabetes: A 12-week randomized open-label crossover study

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in adults with OI that clinicians should be aware of when caring for patients with OI.

INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen type 1 throughout the human body. The vast majority of knowledge is derived from studies performed in the pediatric population. Thus, we aimed to investigate the nature and prevalence of ophthalmologic, odontologic, and otologic phenotypes in an adult population with OI.

METHODS: The study population comprises 85 Danish OI patients (age 44.9 ± 15.9 years). Fifty-eight patients had OI type I, 12 OI type III, and 15 OI type IV according to the classification by Sillence. Audiometric evaluations and dental examinations were performed in 62 and 73 patients, respectively. Ophthalmologic investigations were performed in 64 patients, including measurements of the central corneal thickness.

RESULTS: All patients, except two, had corneal thickness below the normal reference value. Patients with OI type I and patients with a quantitative collagen defect had thinner corneas compared to patients with OI type III and other patients with a qualitative collagen defect. One patient in this cohort was diagnosed with and treated for acute glaucoma. Dentinogenesis imperfecta was diagnosed in one fourth of the patients, based on clinical and radiographic findings. This condition was predominately seen in patients with moderate to severe OI. Hearing loss requiring treatment was found in 15 of 62 patients, of whom three were untreated. The most prevalent type of hearing loss (HL) was sensorineural hearing loss, whereas conductive HL was solely seen in patients with OI type III. The patients with the most severe degrees of HL were patients with mild forms of OI. Age was associated with increased HL.

CONCLUSION: Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.

Original languageEnglish
JournalOsteoporosis International
Volume29
Issue number12
Pages (from-to)2781-2789
ISSN0937-941X
DOIs
Publication statusPublished - 1 Dec 2018

ID: 55065640