Osteogenesis Imperfecta

2018 ◽  
Author(s):  
Aimee G. Kakascik
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Bone Fragility ◽  
Type I ◽  
Multiple Fractures ◽  
Systemic Involvement ◽  
Collagen Formation ◽  
Different Types ◽  
Clinical Triad ◽  
Blue Sclerae

Osteogenesis imperfecta (OI) is a genetic disorder that affects collagen formation and ultimately leads to increased bone fragility. The fragile nature of the bones leads to fractures, even from seemingly normal patient care. Affected patients are at the highest risk for unintentional fractures during perioperative care. There are several different types of OI. Type I is the most common. With the different types come varying degrees of severity. Types II and III are the more severe forms. The classic clinical triad seen in OI is blue sclerae, multiple fractures, and conductive hearing loss. The patient may have other systemic involvement beyond the fragile musculoskeletal system. It is imperative that the anesthesiologist be well-versed in the natural history and perioperative management of patients with OI in order to optimize care and minimize complications.

Hearing Loss in Finnish Adults with Osteogenesis Imperfecta: A Nationwide Survey

2002 ◽  
Vol 111 (10) ◽  
pp. 939-946 ◽  
Author(s):  
Kaija Kuurila ◽  
Reijo Johansson ◽  
Ilkka Kaitila ◽  
Reidar Grénman
Keyword(s):  
Hearing Loss ◽  
Osteogenesis Imperfecta ◽  
Clinical Features ◽  
Genetic Disorder ◽  
Nationwide Survey ◽  
Bone Fragility ◽  
Type I ◽  
Impaired Hearing ◽  
Hearing Ability ◽  
Blue Sclerae

Hearing loss, bone fragility, and blue sclerae are the principal clinical features in osteogenesis imperfecta (OI), a genetic disorder of connective tissue. In a nationwide search, an audiometric evaluation of 133 adult patients was performed. According to the criteria introduced by Sillence, type I was the most common form of OI. Of the patients with normal hearing on audiometry, 17.1% reported subjective hearing loss, and 19.1% of the patients with impaired hearing did not recognize it. On audiometry, 57.9% of the patients had hearing loss, which was progressive, often of mixed type, and mostly bilateral, and began in the second to fourth decades of life. The frequency or severity of the hearing loss was not correlated with any other clinical features of OI. Hearing loss is common, affecting patients with all types of OI. Subjective misjudgment of hearing ability supports the need for repeated audiometry in all OI patients. A baseline study at the age of 10 years followed by audiograms every third year thereafter is recommended.

scholarly journals Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta

2021 ◽  
Vol 10 (14) ◽  
pp. 3141
Author(s):  
Hyerin Jung ◽  
Yeri Alice Rim ◽  
Narae Park ◽  
Yoojun Nam ◽  
Ji Hyeon Ju
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Disease Modeling ◽  
Bone Fragility ◽  
Osteogenic Potential ◽  
Type I ◽  
Gene Correction ◽  
Col1a1 Gene ◽  
Collagen Formation

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and repeated fractures. The bone fragility associated with OI is caused by a defect in collagen formation due to mutation of COL1A1 or COL1A2. Current strategies for treating OI are not curative. In this study, we generated induced pluripotent stem cells (iPSCs) from OI patient-derived blood cells harboring a mutation in the COL1A1 gene. Osteoblast (OB) differentiated from OI-iPSCs showed abnormally decreased levels of type I collagen and osteogenic differentiation ability. Gene correction of the COL1A1 gene using CRISPR/Cas9 recovered the decreased type I collagen expression in OBs differentiated from OI-iPSCs. The osteogenic potential of OI-iPSCs was also recovered by the gene correction. This study suggests a new possibility of treatment and in vitro disease modeling using patient-derived iPSCs and gene editing with CRISPR/Cas9.

scholarly journals Dentinogenesis Imperfecta and Caries in Osteogenesis Imperfecta among Vietnamese Children

2021 ◽  
Vol 9 (5) ◽  
pp. 49
Author(s):  
Huong Thi Thu Nguyen ◽  
Dung Chi Vu ◽  
Duc Minh Nguyen ◽  
Quang Dinh Dang ◽  
Van Khanh Tran ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Collagen Type I ◽  
Bone Fragility ◽  
Open Bite ◽  
Type I ◽  
Dentinogenesis Imperfecta ◽  
Type Iv ◽  
Brown Discoloration ◽  
Study Participants

Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility and low bone mass, caused mainly by mutations in collagen type I encoding genes. The current study aimed to evaluate dentinogenesis imperfecta (DI), oral manifestations and caries status of OI children. Sixty-eight children (41 males, 27 females) aged from 3 to 17 years old (mean 9 ± 4.13) participated in the study. Participants were classified into three OI type groups (I—2 cases, III—31 cases and IV—35 cases). Clinical examination and an orthopantomogram were used to obtain prevalences and associations of DI, caries status, malocclusion, crossbite, open bite, eruption, impaction and missing teeth with OI. The prevalence of DI among OI patients was 47.1%, more common in OI type III than type IV. The yellow-brown discoloration type was more vulnerable to attrition than the opalescent-grey one in the primary dentition. OI seemed not to have a high risk of caries; the prevalence of caries was 69.1%. A high incidence of malocclusion, crossbite and open bite was observed. In-depth oral information would provide valuable data for better dental management in OI patients. Parents and general doctors should pay more attention to dental care to prevent caries and premature tooth loss.

Neurosurgical implications of osteogenesis imperfecta in children

2008 ◽  
Vol 1 (3) ◽  
pp. 229-236 ◽  
Author(s):  
Deanna Sasaki-Adams ◽  
Abhaya Kulkarni ◽  
James Rutka ◽  
Peter Dirks ◽  
Michael Taylor ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Disorder ◽  
Care Center ◽  
Spinal Fractures ◽  
Basilar Invagination ◽  
Bone Fragility ◽  
Shunt Insertion ◽  
Collagen Formation ◽  
Minimal Trauma ◽  
Sick Children

✓Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of skeletal vulnerability, ligamentous laxity, and scleral discoloration. Children with OI may suffer from complex neurosurgical problems affecting the brain and spine. The authors sought to determine the neurosurgical implications of OI in a cohort of patients treated at a quaternary care center for pediatrics. The authors reviewed the case histories of 10 children with OI treated by the neurosurgical service at the Hospital for Sick Children in Toronto between January 1988 and March 2007. The cases of 4 of these children are highlighted in the article. The most common neurosurgical conditions encountered in this cohort included macrocephaly in 5 patients, subdural hematoma in 3 patients, epidural hematoma in 2 patients, and hydrocephalus in 3 patients. Basilar invagination and spinal fractures were observed in 20% of the cohort. Although some patients could be treated nonoperatively, several required craniotomy for clot evacuation, decompression, and spinal fixation for fracture or basilar invagination, and cerebrospinal fluid shunt insertion. Neurosurgical conditions affecting patients with OI include macrocephaly, the development of an acute intracranial hematoma after often minimal trauma, the development of chronic subdural fluid collections that may require drainage, hydrocephalus (both communicating and noncommunicating), basilar invagination, and subaxial spinal fractures. Surgery may be complicated in some children because of the underlying bone fragility and bleeding diathesis commonly observed in patients with OI.

scholarly journals Case Report: A Novel COL1A1 Missense Mutation Associated With Dentineogenesis Imperfecta Type I

2021 ◽  
Vol 12 ◽  
Author(s):  
Yuting Zeng ◽  
Yuhua Pan ◽  
Jiayao Mo ◽  
Zhiting Ling ◽  
Lifang Jiang ◽  
...  
Keyword(s):  
Stem Cells ◽  
Case Report ◽  
Missense Mutation ◽  
Genetic Disorder ◽  
Bone Fragility ◽  
Type I ◽  
Type I Procollagen ◽  
Underlying Mechanisms ◽  
Blue Sclerae ◽  
Regenerative Therapies

Background: Osteogenesis imperfecta (OI) is a clinical and genetic disorder that results in bone fragility, blue sclerae and dentineogenesis imperfecta (DGI), which is mainly caused by a mutation in the COL1A1 or COL1A2 genes, which encode type I procollagen.Case Report: A missense mutation (c.1463G > C) in exon 22 of the COL1A1 gene was found using whole-exome sequencing. However, the cases reported herein only exhibited a clinical DGI-I phenotype. There were no cases of bone disease or any other common abnormal symptom caused by a COL1A1 mutation. In addition, the ultrastructural analysis of the tooth affected with non-syndromic DGI-I showed that the abnormal dentine was accompanied by the disruption of odontoblast polarization, a reduced number of odontoblasts, a reduction in hardness and elasticity, and the loss of dentinal tubules, suggesting a severe developmental disorder. We also investigated the odontoblast differentiation ability using dental pulp stem cells (DPSCs) that were isolated from a patient with DGI-I and cultured. Stem cells isolated from patients with DGI-I are important to elucidate their pathogenesis and underlying mechanisms to develop regenerative therapies.Conclusion: This study can provide new insights into the phenotype-genotype association in collagen-associated diseases and improve the clinical diagnosis of OI/DGI-I.

scholarly journals Osteogenesis imperfecta: a case report

2014 ◽  
Vol 43 (1) ◽  
pp. 30-32
Author(s):  
Ratu Rumana Binte Rahman ◽  
Shamasunnahar Begum
Keyword(s):  
Osteogenesis Imperfecta ◽  
Pulmonary Hypoplasia ◽  
Bone Fragility ◽  
Lower Limbs ◽  
Inherited Disease ◽  
Multiple Fractures ◽  
X Ray ◽  
Medical College ◽  
Minimal Trauma ◽  
Hallmark Feature

Osteogenesis Imperfecta is a inherited disease of connective tissue. Its hallmark feature is bone fragility with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. The disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and female of all races. We present a 38 year lady who gave birth to baby with osteogenesis imperfecta in Sir Salimullah Medical College & Mitford Hospital, Dhaka. Both lower limbs appeared shortened with thick musculo-cutaneous folds. Both the femoral shafts were shortened, deformed and fragmented. Both the humeral and fibular shafts were deformed and the presentation was breech. Her sclerae was blue. X-ray showed multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. DOI: http://dx.doi.org/10.3329/bmj.v43i1.21376 Bangladesh Med J. 2014 January; 43 (1): 30-32

scholarly journals Osteogenesis imperfecta: potential therapeutic approaches

PeerJ ◽  
2018 ◽  
Vol 6 ◽  
pp. e5464 ◽  
Author(s):  
Maxime Rousseau ◽  
Jean-Marc Retrouvey ◽  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Scientific Evidence ◽  
Genetic Disorder ◽  
Collagen Type I ◽  
Team Approach ◽  
Type I ◽  
Full Coverage ◽  
Preliminary Examination ◽  
Zirconia Crowns ◽  
Intravenous Bisphosphonate

Osteogenesis imperfecta (OI) is a genetic disorder that is usually caused by disturbed production of collagen type I. Depending on its severity in the patient, this disorder may create difficulties and challenges for the dental practitioner. The goal of this article is to provide guidelines based on scientific evidence found in the current literature for practitioners who are or will be involved in the care of these patients. A prudent approach is recommended, as individuals affected by OI present with specific dentoalveolar problems that may prove very difficult to address. Recommended treatments for damaged/decayed teeth in the primary dentition are full-coverage restorations, including stainless steel crowns or zirconia crowns. Full-coverage restorations are also recommended in the permanent dentition. Intracoronal restorations should be avoided, as they promote structural tooth loss. Simple extractions can also be performed, but not immediately before or after intravenous bisphosphonate infusions. Clear aligners are a promising option for orthodontic treatment. In severe OI types, such as III or IV, orthognathic surgery is discouraged, despite the significant skeletal dysplasia present. Given the great variations in the severity of OI and the limited quantity of information available, the best treatment option relies heavily on the practitioner’s preliminary examination and judgment. A multidisciplinary team approach is encouraged and favored in more severe cases, in order to optimize diagnosis and treatment.

scholarly journals Surgical treatment of comminuted intraarticular distal femur fracture in patient with osteogenesis imperfecta type I

2019 ◽  
Vol 7 (1) ◽  
pp. 87-96
Author(s):  
Mikhail E. Burtsev ◽  
Aleksandr V. Frolov ◽  
Aleksei N. Logvinov ◽  
Dmitry O. Ilyin ◽  
Andrey V. Korolev
Keyword(s):  
Surgical Treatment ◽  
Osteogenesis Imperfecta ◽  
Distal Femur ◽  
Bone Fragility ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Intraarticular Fracture ◽  
Femur Fractures ◽  
Intraarticular Fractures ◽  
Femur Diaphysis

Aim. Osteogenesis imperfecta (OI) is characterized by bone fragility and long bones deformities. Most studies are dedicated to surgical treatment of diaphyseal fractures. To our knowledge, there are no reports giving recommendations about surgical treatment of distal femur intraarticular fractures. Clinical case. We describe the surgical treatment of a 14-year-old girl with OI who had intraarticular fracture of the left distal femur and fracture of a right femur diaphysis. Surgical treatment was complicated by migration of a titanium elastic nail and impaired consolidation, which had to be fixed with a plate and led to peri-implant fracture. Results were assessed before trauma and at 1 and 2 years after trauma with Gillette Functional Assessment Questionnaire (GFAQ) and Bleck score. Discussion. During surgical treatment of comminuted intraarticular distal femur fractures in patients with OI, we had to use big cancellous screw that made implantation in an intramedullary fixator more difficult. Internal fixation with a plate in patients with OI is associated with high risks of peri-implant fracture. Conclusion. For treatment of comminuted intraarticular fracture of the distal femur, it is necessary to have large variety of internal fixators, follow the principles of absolute and relative stability, and be familiar with minimally-invasive techniques.

scholarly journals Fatigue in adults with Osteogenesis Imperfecta

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Arjan G. J. Harsevoort ◽  
Koert Gooijer ◽  
Fleur S. van Dijk ◽  
Daniëlle A. F. M. van der Grijn ◽  
Anton A. M. Franken ◽  
...  
Keyword(s):  
Quality Of Life ◽  
The Netherlands ◽  
Osteogenesis Imperfecta ◽  
Functional Ability ◽  
Normal Population ◽  
Bone Fragility ◽  
Mobile Phone Application ◽  
The Mean ◽  
Blue Sclerae

Abstract Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability. The aim of this study is to investigate whether adults with Osteogenesis Imperfecta are significantly more fatigued than the normal population. Methods The Fatigue Severity Scale (FSS) was distributed by mobile phone application among 151 adult patients with different OI types. Results of the FSS in the OI group were compared with two control populations from America (n = 20) and the Netherlands (n = 113). Results Ninety-nine patients (OI type 1 (n = 72), OI type 3 (n = 13), OI type 4 (n = 14) completed the FSS questionnaire. The mean FSS score of this cohort was 4.4 and significantly higher than the control populations (2.3/2.9). 65% of our cohort reported at least moderate fatigue compared with 2 control populations from America and the Netherlands. Conclusion Fatigue in patients with OI is a frequently encountered problem in our expert clinic but research into this topic is sparse. This pilot study is the largest study to date investigating fatigue in patients with OI and results have been compared with two control groups. The mean FSS score of 4.4 in the OI group indicates that people with OI are generally significantly more fatigued than the control population. Further evaluation of fatigue and its influencers in a larger group of OI patients is important for future management.

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