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 Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.

2002 ◽  
Vol 49 (2) ◽  
pp. 433-441 ◽  
Author(s):  
Anna Gajko-Galicka
Keyword(s):  
Osteogenesis Imperfecta ◽  
Bone Disease ◽  
Type I Collagen ◽  
Wide Spectrum ◽  
Dominant Negative ◽  
Structural Defects ◽  
Collagen Molecule ◽  
Type I ◽  
Structural Protein ◽  
Collagen Genes

Osteogenesis imperfecta (OI), commonly known as "brittle bone disease", is a dominant autosomal disorder characterized by bone fragility and abnormalities of connective tissue. Biochemical and molecular genetic studies have shown that the vast majority of affected individuals have mutations in either the COL1A1 or COL1A2 genes that encode the chains of type I procollagen. OI is associated with a wide spectrum of phenotypes varying from mild to severe and lethal conditions. The mild forms are usually caused by mutations which inactivate one allele of COL1A1 gene and result in a reduced amount of normal type I collagen, while the severe and lethal forms result from dominant negative mutations in COL1A1 or COL1A2 which produce structural defects in the collagen molecule. The most common mutations are substitutions of glycine residues, which are crucial to formation and function of the collagen triple helix, by larger amino acids. Although type I collagen is the major structural protein of both bone and skin, the mutations in type I collagen genes cause a bone disease. Some reports showed that the mutant collagen can be expressed differently in bone and in skin. Since most mutations identified in OI are dominant negative, the gene therapy requires a fundamentally different approach from that used for genetic-recessive disorders. The antisense therapy, by reducing the expression of mutant genes, is able to change a structural mutation into a null mutation, and thus convert severe forms of the disease into mild OI type I.

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.

Dentine is biochemically abnormal in osteogenesis imperfecta

1986 ◽  
Vol 70 (4) ◽  
pp. 339-346 ◽  
Author(s):  
John P. Gage ◽  
Martin J. O. Francis ◽  
Gill E. Whitaker ◽  
Roger Smith
Keyword(s):  
Amino Acid ◽  
Osteogenesis Imperfecta ◽  
Amino Acid Composition ◽  
Acid Composition ◽  
High Frequency ◽  
Permanent Teeth ◽  
Type I ◽  
Clinically Normal ◽  
Lysine Residues ◽  
Biochemical Abnormalities

1. In osteogenesis imperfecta the bones are brittle but the teeth, whose dentine contains the same genetic collagen as bone (type I), may be clinically normal. 2. To investigate this paradox we have measured the amino acid composition of insoluble dentine collagen from 16 deciduous and 18 permanent teeth in control subjects and in 59 patients with different forms of osteogenesis imperfecta. 3. In 55 of the patient samples significant differences from normal were found, especially in the number of lysine residues, and in the relative amounts of hydroxylysine to lysine. 4. These results demonstrate the high frequency of biochemical abnormalities in osteogenesis imperfecta. They also suggest that classifications of this disorder based on the presence or absence of clinical dentiogenesis imperfecta are likely to be unsound.

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.

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