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.

scholarly journals Oral manifestations and rehabilitation of a patient with osteogenesis imperfecta

2021 ◽  
pp. 83-83
Author(s):  
Milena Milanovic ◽  
Milos Beloica ◽  
Olivera Jovicic ◽  
Zoran Mandinic ◽  
Bojan Janjic ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Alveolar Bone ◽  
Dental Treatment ◽  
Glass Ionomer Cement ◽  
Signs And Symptoms ◽  
Panoramic Radiograph ◽  
Connective Tissue Disorder ◽  
Dentinogenesis Imperfecta ◽  
Bony Tissue ◽  
Severe Deficiency

Introduction. Osteogenesis imperfecta is a rare heritable connective tissue disorder characterized by increased fragility of the bony tissue. The incidence of orofacial alterations associated with osteogenesis imperfecta is variable and includes dentinogenesis imperfecta, malocclusions, hypoplasia of the jaws, delayed dental development and structural abnormalities of the teeth. Case outline. A 22-year-old girl was referred to the Clinic for Pediatric and Preventive Dentistry for dental treatment. Enlarged head, triangular-shaped face, mandibular prognathism with excessive maxillary hypoplasia, lowered vertical occlusal dimension were present features. The intraoral findings included dentinogenesis imperfecta with Kennedy?s class IV in the upper jaw and class II in the lower jaw. Panoramic radiograph revealed abnormalities in crown and root shape, obliteration of the pulp chamber and severe deficiency of alveolar bone mass. Overall treatment involved five phases: I - Preventive and prophylactic treatment, II - Direct restauration of five teeth with glass ionomer cement, III - Extraction of severely damaged teeth, IV - Prosthodontic rehabilitation with removable partial dentures, V - Maintenance and follow-up phase. Conclusion. Low prevalence and wide variety of signs and symptoms make dental treatment of osteogenesis imperfecta overly complex and challenging. Nevertheless, it is essential to improve craniofacial and dental function along with facial aesthetic.

scholarly journals The oral health status and dental treatment needs of children affected by osteogenesis imperfecta – part I

New Medicine ◽  
2020 ◽  
Vol 24 (2) ◽  
Author(s):  
Agnieszka Kozubska ◽  
Danuta Chlebna-Sokół ◽  
Elżbieta Jakubowska-Pietkiewicz ◽  
Izabela Michałus ◽  
Karolina Beska-Bartecka ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Disease ◽  
Population Studies ◽  
Age Groups ◽  
Permanent Teeth ◽  
Type I ◽  
Dentinogenesis Imperfecta ◽  
Treatment Needs ◽  
Dmft Index ◽  
Brittle Bone Disease

Introduction. Osteogenesis imperfecta is an inherited disorder of the connective tissue. Which in most cases, is caused by mutations in the genes encoding collagen type I. Apart from clinical features, there are characteristic dental aberrations. Aim. The purpose of this research was the assessment of the condition of teeth and therapeutic needs of children with the congenital brittle bone disease. Material and methods. The questionnaires with patient’s parents, consisting medical history and dental history were performed. The intra-oral examination included the condition of the dentition, the presence of dentinogenesis imperfecta, malocclusion, the assessment of the attrition index and dmft/DMFT index. Results. 62 patients with osteogenesis imperfecta were examined – 32 boys and 30 girls. There were normal eruption times of deciduous (48 patients – 77.42%) and permanent teeth (34 patients – 82.93%) reported in the majority of the patients with OI. In most cases bad eating and hygienic habits were observed. Dentinogenesis imperfecta in deciduous and permanent teeth was reported mostly in type III of OI. dmft/DMFT index among children with OI were low in comparison to the population studies of corresponding age groups. Conclusions. Despite bad eating and hygienic habits as well as pathological structure of dentition of patients with the congenital brittle bone disease, caries index among these children were low in comparison to the population studies of corresponding age groups.

scholarly journals Osteogenesis Imperfecta/Lobstein Syndrome associated with Dentinogenesis Imperfecta

2013 ◽  
Vol 14 (1) ◽  
pp. 140-142
Author(s):  
Naresh Lingaraju ◽  
PJ Nagarathna ◽  
R Vijayalakshmi ◽  
P Sheshadri
Keyword(s):  
Bone Mass ◽  
Osteogenesis Imperfecta ◽  
Primary Teeth ◽  
Bone Fragility ◽  
Osteogenesis Imperfecta Type ◽  
Dentinogenesis Imperfecta ◽  
Low Bone Mass ◽  
Bone Deformity ◽  
Related Disorder ◽  
Type Iv

ABSTRACT Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone deformity, scoliosis, barrel shaped rib cage, and short stature. The clinical, radiographic ad histologic features are reviewed along with management aspects. How to cite this article Lingaraju N, Nagarathna PJ, Vijayalakshmi R, Sheshadri P. Osteogenesis Imperfecta/ Lobstein Syndrome associated with Dentinogenesis Imperfecta. J Contemp Dent Pract 2013;14(1):140-142.

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.

scholarly journals Combination of osteogenesis imperfecta and type 1 diabetes mellitus

2022 ◽  
Vol 24 (5) ◽  
pp. 470-476
Author(s):  
D. A. Marmalyuk ◽  
G. E. Runova ◽  
S. E. Moshenina ◽  
M. P. Shapka ◽  
V. V. Fadeyev
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Osteogenesis Imperfecta ◽  
Type 1 Diabetes Mellitus ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Mineral Density ◽  
Skeletal Deformity

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder accompanied by increased bone fragility. Five types of OI are distinguished on the basis of phenotypic manifestations. OI type 1 is characterized by a reduced amount of normal type 1 collagen and is the mildest form. In addition to the fractures, course of disease can be accompanied by short stature, skeletal deformity and joint hypermobility. Although fracture risk decreases with age, such patients needs regular follow-up with an assessment of bone mineral density (BMD) and, if necessary, correction of therapy to improve the quality of life. Type 1 diabetes mellitus (T1DM) is associated with a decreased BMD, which is mostly attributed to insulin deficiency and hyperglycemia, which also increase the risk of fractures. Achieving and stable maintenance of glycemic targets is often challenging, but it is necessary to exclude hyperglycemia as a factor that further worsens the quality of bone. This paper describes a clinical case of an extremely rare combination of type 1 OI and T1DM, two diseases with a pronounced negative effect on bone tissue. The combination of these pathologies requires special management tactics for such patients to reduce the risk of developing new fractures.

scholarly journals Functional outcomes of an adult with osteogenesis imperfecta after rehabilitation post bilateral Girdlestone procedure

2021 ◽  
Vol 14 (4) ◽  
pp. e239884
Author(s):  
Isabella Supnet ◽  
Joycie Eulah Abiera ◽  
Maria Melanie Liberty Alcausin ◽  
Carlo Emmanuel Sumpaico
Keyword(s):  
Osteogenesis Imperfecta ◽  
Functional Outcomes ◽  
Daily Living ◽  
Short Distance ◽  
Subtrochanteric Fracture ◽  
Osteogenesis Imperfecta Type ◽  
Postoperative Rehabilitation ◽  
Outpatient Settings ◽  
To Receive

This is a case of a 54-year-old woman managed as a case of osteogenesis imperfecta type 1 who sustained a left subtrochanteric fracture and eventual ankylosis of both hips after surgery and immobilisation. These injuries rendered her bedridden, maximally assisted in transitions and transfers, and unable to be positioned past 30° of backrest elevation. The patient underwent a bilateral Girdlestone procedure and had tailored progressive postoperative rehabilitation in both the inpatient and outpatient settings. The patient also continued to receive bisphosphonates during her preoperative and postoperative period, to improve bone stock and aid in relieving pain. Through the efforts of a team of physiatrists, geneticists and orthopaedic surgeons, the patient was able to achieve pain-free sitting, independent transitions and short-distance ambulation, which have allowed her to care for herself more effectively and return to her work and activities of daily living.

Comparative analysis of the economic costs of treating patients with non-infectious diseases of internal osteosynthesis

2020 ◽  
Vol 22 (4) ◽  
pp. 156-160
Author(s):  
V. V. Khominets ◽  
V. Yu. Tegza ◽  
I. V. Foos ◽  
E. M. Pugaev
Keyword(s):  
Comparative Analysis ◽  
Indirect Costs ◽  
Infectious Complications ◽  
Long Bones ◽  
Economic Costs ◽  
Direct And Indirect Costs ◽  
Military Medical Academy ◽  
Limb Fractures ◽  
Primary Osteosynthesis ◽  
The Military

A comparative analysis of the economic costs of revision surgical treatment of 121 patients with non-infectious complications of internal osteosynthesis and 59 patients who underwent primary osteosynthesis for fractures of the long bones of the limbs with an uncomplicated course was carried out. General economic costs include direct and indirect costs. It was found that the total costs for the treatment of patients suffering from non-infectious complications of internal osteosynthesis of the long bones of the extremities, who are in the clinic of military traumatology and orthopedics. G.I. Turner of the Military Medical Academy in the period from 2007 to 2018 revision surgery was performed, amounted to 279637238 rubles, which corresponds to 2311051,55 rubles per patient. At the same time, the total costs for the treatment of patients with fractures of the long bones of the extremities without complications amounted to 44960873 rubles (762048,69 rubles per patient). The total cost per patient with a non-infectious complication of internal osteosynthesis of the femur was 2540499,54 rubles (483824,85 straight, 2056674,69 indirect), of the leg bones 2333762,17 rubles (474501,47 straight, 1859260,70 indirect), the humerus 1830362,75 rubles (399942 straight, 1430420,75 indirect), the bones of the forearm 1804664,6 rubles (339700 straight, 1464964,6 indirect). It was revealed that due to failures after primary osteosynthesis of limb fractures and complications, the costs associated with the direct and indirect costs of their treatment increase. In this regard, further research is needed to improve the treatment of complications of internal osteosynthesis and to develop a set of measures for their prevention. This is important both for the patient and for the health care system as a whole.

scholarly journals Pfeiffer syndrome type 2: case report

2003 ◽  
Vol 121 (4) ◽  
pp. 176-179 ◽  
Author(s):  
Maria Kiyoko Oyamada ◽  
Haideé Salgado Alonso Ferreira ◽  
Marcelo Hoff
Keyword(s):  
Poor Prognosis ◽  
Recent Literature ◽  
Choanal Atresia ◽  
Early Death ◽  
Survival Outcome ◽  
Syndrome Type ◽  
Pfeiffer Syndrome ◽  
Diagnostic Characteristics

OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

Sign in / Sign up

Export Citation Format

Share Document