scholarly journals Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case

2021 ◽  
Vol 10 (1) ◽  
pp. 23-25
Author(s):  
Marsha Ruthy Darmawan ◽  
Elysanti Dwi Maharani
Keyword(s):  
Osteogenesis Imperfecta ◽  
Connective Tissue Disorder ◽  
Skeletal Structure ◽  
Type I ◽  
X Rays ◽  
Severe Osteoporosis ◽  
Non Union ◽  
Type Iv ◽  
Skeletal Manifestation ◽  
Brittle Bone Disease

Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease. Here we report three cases of OI type IV in adults. Skeletal conventional X-rays were performed to all patients and all of them has similar results such as bowing deformities of long bones, old union and some non-union fractures with extreme angulation and severe osteoporosis. OI are classified based on skeletal structure, sclera colorization, dentinogenesis, and functional metabolic defect genetically. OI type I and IV can live until adults; also, the same type of OI can be found in siblings. Skeletal conventional X-rays can solely make the diagnosis.

Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure

2021 ◽  
Author(s):  
Kaitlin L Ballenger ◽  
Nicol Tugarinov ◽  
Sara K Talvacchio ◽  
Marianne M Knue ◽  
An N Dang Do ◽  
...  
Keyword(s):  
Energy Expenditure ◽  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Resting Energy Expenditure ◽  
Type I ◽  
Healthy Controls ◽  
Type Iv ◽  
Reduced Mobility ◽  
The Impact ◽  
Resting Energy

Abstract Context Mutations in type I collagen or collagen-related proteins cause Osteogenesis Imperfecta (OI). Energy expenditure and body composition in OI could reflect reduced mobility, or intrinsic defects in osteoblast differentiation increasing adipocyte development. Objective Compare adiposity and resting energy expenditure (REE) in OI and healthy controls (HC), for OI genotype- and Type-associated differences. Design/Setting/Participants We studied 90 participants, 30 with OI (13 COL1A1 Gly, 6 COL1A2 Gly, 3 COL1A1 non-Gly, 2 COL1A2 non-Gly, 6 non-COL; 8 Type III, 16 Type IV, 4 Type VI, 1 Type VII, 1 Type XIV) and 60 HC with sociodemographic characteristics/BMI/BMIz similar to the OI group. Participants underwent dual-energy X-ray absorptiometry to determine lean mass and fat mass percentage (FM%) and REE. FM% and REE were compared, adjusting for covariates to examine the relationship of OI genotypes and phenotypic Types. Results FM% did not differ significantly in all patients with OI versus HC (OI: 36.6±1.9%, HC: 32.7±1.2%, p =0.088). FM% was, however, greater than HC for those with non-COL variants (p=0.018). FM% did not differ from HC among OI Types (p’s>0.05). Overall, covariate-adjusted REE did not differ significantly between OI and HC (OI: 1376.5±44.7 kcal/d, healthy controls: 1377.0±96 kcal/d p=0.345). However, those with non-COL variants (p=0.034) and Type VI OI (p=0.04) had significantly lower REE than HC. Conclusions Overall, patients with OI did not significantly differ in either extra-marrow adiposity or REE from BMI-similar HC. However, reduced REE among those with non-COL variants may contribute to greater adiposity.

scholarly journals Intracapsular fractures of the femoral neck: Internal fixation or arthroplasty

2015 ◽  
Vol 62 (1) ◽  
pp. 65-68
Author(s):  
M. Bogosavljevic ◽  
B. Ristic ◽  
D. Stranojlovic ◽  
Z. Pavlov ◽  
D. Stokic ◽  
...  
Keyword(s):  
Total Hip Arthroplasty ◽  
Femoral Neck ◽  
Internal Fixation ◽  
Hip Arthroplasty ◽  
Type I ◽  
Non Union ◽  
Total Hip ◽  
Type Iii ◽  
Type Iv ◽  
Medial Cortex

Objective: Significant advances in the surgical treatment of intracapsular fractures of the femoral neck began in the mid-twentieth century, because of the better understanding of the characteristics and biomechanics of the fractures. The aim of this study is to precisely identify the characteristics of the fractures, that will be taken into account in the individualization of treatment of intracapsular fractures of the femur. Materials and Methods: We analyzed, in a retrospective study, 148 patients with intraarticular fractures of the femoral neck from the registry of the Orthopaedic Department in Pozarevac, in the period from 2009 to 2014. Fractures were classified by the modified Garden?s classification. Garden type III fractures were divided into two sub-types. Garden type IIIa included fractures in which the distance between the fragments of the medial cortex was less than ? the diameter of the femoral neck. Garden type III b included fractures in which the distance of the medial cortex of the fracture fragments was larger than ? the diameter of the femoral neck. Patients with the Garden type I fracture (6 cases), Garden type II ( 22 cases), Garden type IIIa (35 cases) and Garden type IV (5 cases) were treated by closed reduction and internal fixation. Patients with Garden type IIIb (28 cases) and Garden type IV (52 cases) were treated by primary total hip replacement. Results : All fractures in patients with the fracture Garden type I (6 cases) and Garden type II (22 cases) have healed and avascular necrosis did not occur. In the group of patients with the Garden type III b fracture, 3 patients with non-union were treated with total hip arthroplasty. In the same group in two patients avascular necrosis occurred. In the group of patients with the Garden type IV fracture who were treated by closed reduction and inter- nal fixation (5 cases), two patients with non-union were treated with total hip arthroplasty. In patients with Garden sub-type III b, in the time of monitoring we found 4 dislocations after primary total hip arthroplasty. One patient underwent acetabular revision in the same group. In the group of patients with Garden type IV fracture, we found 7 dislocations after total hip arthroplasty and two patients underwent acetabular revision surgery. Conclusion: Our results indicate that fractures Garden type I, II and Garden type III a can be successfully treated with internal fixation. Fractures Garden type III b and IV should be treated by primary hip arthroplasty, because of internal fixation of these fractures lead to unsatisfactory results.

scholarly journals Osteogenesis and dentinogenesis imperfecta in a four-month-old English mastiff

2019 ◽  
Vol 7 (3) ◽  
pp. e000835 ◽  
Author(s):  
Randi Gold ◽  
Roy R Pool ◽  
Erin E Edwards
Keyword(s):  
Osteogenesis Imperfecta ◽  
Poor Prognosis ◽  
Connective Tissue Disorder ◽  
Long Bones ◽  
Dentinogenesis Imperfecta ◽  
Low Bone Mass ◽  
Brittle Bone Disease ◽  
Limb Fractures ◽  
Gross Examination

Osteogenesis imperfecta, also known as ‘brittle bone disease’, is an inherited connective tissue disorder caused by defects in type 1 collagen. The disease results in low bone mass and reduced bone strength, often manifesting as multiple intrauterine fractures, skeletal abnormalities and death before adulthood. A four-month-old, female entire, English mastiff was presented for multiple limb fractures. Due to a poor prognosis, euthanasia was elected. Gross examination revealed diffuse osteopenia with multiple chronic and acute skeletal fractures. All adult teeth were undersized and opalescent, and multiple deciduous incisors were retained. Histopathology of the long bones demonstrated severe, diffuse osteopenia with retention of non-ossified cartilage spicules in the secondary spongiosa. The incisor teeth had multifocal disorganisation of odontoblasts and ameloblasts that exhibited piling (dysplasia) and hypoplasia of the dentin. Diagnoses of osteogenesis imperfecta and dentinogenesis imperfecta were made. Osteogenesis imperfecta should be considered as a cause of diffuse osteopenia in young dogs.

radiological features of the brittle bone diseases

2003 ◽  
Vol 5 (1) ◽  
pp. 39-45 ◽  
Author(s):  
c. r. paterson
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Disease ◽  
Bone Diseases ◽  
X Rays ◽  
Accidental Injury ◽  
Radiological Features ◽  
Wide Range ◽  
Brittle Bone Disease ◽  
Non Accidental Injury ◽  
Temporary Brittle Bone Disease

this paper describes some radiological features of osteogenesis imperfecta and temporary brittle bone disease. both conditions cause fractures in early childhood that the parents cannot explain. they can underlie the finding of unsuspected fractures when x-rays are done for other reasons, including fractures of different ages. both can readily be confused with non-accidental injury.in these disorders any type of fracture can occur; no fracture pattern makes bone disease more or less likely. metaphyseal fractures, often regarded as specific for non-accidental injury, also have a wide range of other causes including several bone diseases. osteopenia cannot be reliably used in diagnosis, not least because it can be absent in some bone diseases such as osteogenesis imperfecta. wormian bones, if present in excess, are a valuable pointer to osteogenesis imperfecta but their absence does not eliminate this diagnosis.there is growing evidence for the identification of temporary brittle bone disease as a distinctive disorder with its own characteristic clinical and radiological findings.

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.

The Relative Incidence of Fractures at the Base of the Proximal Phalanx of the Fingers in Children

2008 ◽  
Vol 33 (4) ◽  
pp. 465-468 ◽  
Author(s):  
M. M. AL-QATTAN ◽  
K. AL-ZAHRANI ◽  
A. A. AL-BOUKAI
Keyword(s):  
Prospective Study ◽  
Proximal Phalanx ◽  
Type I ◽  
X Rays ◽  
Type Ii ◽  
Fracture Type ◽  
Type Iv ◽  
Salter Harris ◽  
A Prospective Study ◽  
Musculoskeletal Radiologist

There is debate regarding the most common fracture type at the base of the proximal phalanx of the fingers in children prior to closure of the epiphysis. In total, 100 consecutive children presenting with 103 fractures were included in a prospective study and their X-rays were reviewed by a consultant musculoskeletal radiologist. The study included 61 boys and 39 girls with a mean age of 10 (range 4–14) years. The most common fracture observed was the juxta-epiphyseal type II fracture (53%), followed by the Salter–Harris type II fracture (26%). Other fractures observed included Salter–Harris type I (4%), Salter–Harris type IV (5%), juxta-epiphyseal type I (8%), transverse metaphyseal (2%) and oblique metaphyseal (2%).

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV

2000 ◽  
Vol 106 (6) ◽  
pp. 605-613 ◽  
Author(s):  
Anick De Vos ◽  
Karen Sermon ◽  
Hilde Van de Velde ◽  
Hubert Joris ◽  
Mark Vandervorst ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Type Iv ◽  
Osteogenesis Imperfecta Type I
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