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Medical Journal, Armed Forces India 2024Osteogenesis imperfecta (OI) is commonly associated with fragility fractures. It is due to abnormality in the quantity and quality of collagen type 1 caused by mutations...
Osteogenesis imperfecta (OI) is commonly associated with fragility fractures. It is due to abnormality in the quantity and quality of collagen type 1 caused by mutations in COL1A1 and COL1A2 genes. Patients with OI would also have blue sclera, ligament hyperlaxity, dentinogenesis imperfecta, hearing abnormality, and short stature. Surgical management is preferred to conservative treatment in long bone fractures. For malunited fractures, Sofield-Millar or multiple osteotomies at different sites of deformities are performed with additional intramedullary device to stabilize the bone. This is a case of femur fracture with multilevel CORAs in an adolescent patient with post-trauma OI in which z-osteotomies were performed and stabilized with titanium elastic nails resulting in good outcomes clinically and radiologically.
PubMed: 38525453
DOI: 10.1016/j.mjafi.2022.04.008 -
Cureus Feb 2024This is a case report presenting a female patient in her twenties suffering from severely stained, unaesthetic, and worn-out teeth since her childhood. It was a major...
This is a case report presenting a female patient in her twenties suffering from severely stained, unaesthetic, and worn-out teeth since her childhood. It was a major aesthetic and functional concern for her. This clinical presentation describes the prosthetic rehabilitation of a patient with generalized discolored and worn-out teeth to have enhanced aesthetics and masticatory function of the patient. This is a referred case of dentinogenesis imperfecta- II (DGI-II) from the Department of Oral Medicine and Radiology and Oral Pathology, as diagnosed by them after a thorough clinical, radiographical, and histopathological examination. DGI is a disorder of teeth characterized by discoloration and rapid wear and belongs to a group of disorders of the development of teeth. Due to the rapid wear and generalized intrinsically stained and discolored teeth, there is a loss of vertical dimension of occlusion (VDO) and an unesthetic look of the patient respectively. Therefore, the main objective of the case report is to re-establish the aesthetic and regain the VDO and functionality of the damaged teeth using the Pankey Mann Schuyler philosophy in which the first anterior teeth were rehabilitated with porcelain fused to metal (PFM) crowns based on aesthetics and phonetics of the patient. This was followed by posterior PFM crowns based on Broadrick's flag analysis for posterior occlusal plane determination and centric occlusion.
PubMed: 38469028
DOI: 10.7759/cureus.53978 -
Clinical Oral Investigations Feb 2024Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient's quality of life....
OBJECTIVE
Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient's quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents.
MATERIAL AND METHODS
A total of 30 OI patients aged eight to fourteen years old followed up at the Oral Care Center for Inherited Diseases were enrolled in the research. OHRQoL was assessed using the short form of the Child Perceptions Questionnaire (CPQ) for eight to ten-year-olds (CPQ) and 11 to 14-year-olds (CPQ). The relationship between the OHRQoL index and its assessment domains, OI types, and the presence of dentinogenesis imperfecta (DI), class III malocclusion, and dental agenesis were evaluated.
RESULTS
The median CPQ score of patients was 5, and there was no significant difference in OHRQoL between children and adolescents, nor associated with the disease severity or the presence of DI. The oral manifestations evaluated did not directly impact the patients' OHRQoL.
CONCLUSIONS
The study demonstrated that the perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged eight to fourteen years while the emotional well-being was the most impacted.
CLINICAL RELEVANCE
this study makes contributions by indicating that addressing dental care for children and adolescents with OI is important in clinical management and better OHRQoL for this population.
Topics: Child; Humans; Adolescent; Oral Health; Osteogenesis Imperfecta; Quality of Life; Cross-Sectional Studies; Malocclusion, Angle Class III; Surveys and Questionnaires; Dental Caries
PubMed: 38396299
DOI: 10.1007/s00784-024-05568-8 -
European Archives of Paediatric... Feb 2024Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation,...
BACKGROUND
Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines.
METHOD
The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI.
PURPOSE
The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.
Topics: Child; Humans; Adolescent; Amelogenesis Imperfecta; Dentinogenesis Imperfecta; Quality of Life; Dentin; United Kingdom
PubMed: 38308725
DOI: 10.1007/s40368-023-00859-2 -
Medicine Jan 2024Dentinogenesis imperfecta (DI) is an autosomal-dominant disorder. The most common clinical manifestations, including obliterated tooth tissues and severe tooth wear,... (Review)
Review
RATIONALE
Dentinogenesis imperfecta (DI) is an autosomal-dominant disorder. The most common clinical manifestations, including obliterated tooth tissues and severe tooth wear, usually lead to tooth extractions. It remains a great challenge for dentists to preserve the residual tooth tissue and establish the esthetics and occlusion of dentitions.
PATIENTS CONCERNS
25-year-old twin sisters, who had suffered from dentinogenesis imperfecta type II for more than 10 years, presented with continuous tooth wear and discomfort from wearing a removable partial denture for more than 3 years.
DIAGNOSIS
Intraoral examination showed extensive tooth wear with enamel exfoliation and typical amber-brown color with an opalescent discoloration. Their panoramic radiographs revealed completely obliterated tooth tissues and severe tooth wear.
INTERVENTIONS AND OUTCOMES
The dentitions were restored with post-and-core crowns and pin lays after preparing root post paths and pin holes guided by computer-aided design/computer-aided manufacturing (CAD/CAM) procedures, resulting in a successful repair.
LESSONS
Severe tooth wear and tooth tissue obliteration are typical clinical manifestations in DI-affected dentitions, increasing the complexity and difficulty in dental restorations. Early diagnosis and appropriate treatments are essential to achieve a favorable prognosis. CAD/CAM procedures, permitting accurate and effective treatment, possess promising potential in the treatment of DI-affected dentitions.
Topics: Adult; Humans; Crowns; Dentinogenesis Imperfecta; Mouth Rehabilitation; Tooth; Tooth Wear; Female
PubMed: 38277536
DOI: 10.1097/MD.0000000000036882 -
Case Reports in Dentistry 2024Pulp involvement of immature permanent teeth with dentinogenesis imperfecta is challenging and could lead to extraction. A case of dentinogenesis imperfecta-induced...
Pulp involvement of immature permanent teeth with dentinogenesis imperfecta is challenging and could lead to extraction. A case of dentinogenesis imperfecta-induced periapical periodontitis of an immature permanent tooth was treated with regenerative endodontic treatment (RET), and root maturation was observed in 12-month follow-up. An 8-year-old girl presented acute pain and swelling in central mandibular region. Clinical and radiographic examination revealed "shell teeth" appearance of teeth 31, 41, and 42. Periapical lesion of tooth 31 was observed. Tooth 41 was previously treated with apexification. RET was planned and carried out for the necrotic tooth (tooth 31) with dentinogenesis imperfecta. The 1-, 3-, 7-, and 12-month postoperative recall revealed complete healing of periapical lesions. Root maturation characterized by elongation of root, thickening of dentinal walls, and closure of root apex was observed with radiographic examinations. We show that RET could be a desirable treatment for necrotic immature permanent teeth with dentinogenesis imperfecta and lead to resolution of endodontic lesions as well as maturation of dental root. The findings of this case suggest that RET should be considered by endodontist and pediatric dentist to treat teeth with similar dental anomalies and apical periodontitis.
PubMed: 38223911
DOI: 10.1155/2024/5128588 -
The American Journal of Case Reports Dec 2023BACKGROUND Osteogenesis imperfecta (OI) is a rare genetic disease that results from mutations in type 1 collagen (COL1) or its interacting proteins. Such mutations lead...
BACKGROUND Osteogenesis imperfecta (OI) is a rare genetic disease that results from mutations in type 1 collagen (COL1) or its interacting proteins. Such mutations lead to defects in bone structure, causing brittle bones, short stature, hearing loss, and dental problems, among others. The current classification system arranges OI into types according to a clinical phenotype that includes the severity of the disease and a combination of specific features, such as blue sclerae and dental abnormalities. CASE REPORT Here, we present a clinical report of a 3-year-old boy diagnosed with OI in utero who has been followed by our pediatric clinic postnatally. The patient was born with multiple bone fractures, a small head circumference, and blue sclerae and later had a concomitant diagnosis of dentinogenesis imperfecta (DI). Soon after birth, the patient was started on bisphosphonate and calcium/vitamin D treatment. The patient's OI type was inconclusive due to the dramatic difference between perinatal and postnatal phenotypes, the presence of blue sclerae, and the additional diagnosis of DI. The patient experienced only 1 new bone fracture postnatally, had normal anthropometric measurements except for short stature, and was healthy. CONCLUSIONS This clinical case is unique owing to the dramatic perinatal and mild postnatal OI phenotypes. This and the unique combination of postnatal features demonstrate that classical OI typing could be inconclusive in atypical disease presentation. This case may demonstrate a new classification possibility outside the current OI nomenclature. However, the potential beneficial role of pharmacological treatment in the clinical outcome of OI cannot be excluded.
Topics: Male; Child; Humans; Child, Preschool; Collagen Type I; Osteogenesis Imperfecta; Mutation; Phenotype
PubMed: 38148598
DOI: 10.12659/AJCR.942239 -
Dental Abnormalities in Two Dental-Skeletal-Retinal Anomaly-Positive Cane Corso Dogs: A Case Series.Journal of Veterinary Dentistry Dec 2023Dental-skeletal-retinal-anomaly (DSRA) is a newly described collagenopathy in Cane Corso dogs. The causative mutation has been linked with splice defects within the...
Dental-skeletal-retinal-anomaly (DSRA) is a newly described collagenopathy in Cane Corso dogs. The causative mutation has been linked with splice defects within the melanoma inhibitory activity member 3 (MIA/3) gene that codes for the TANGO1 protein. This case series presents the first dental-related radiographic and histopathological abnormalities in two dogs with genetically confirmed DSRA. The clinical, radiological, and histological features are similar to those reported for MIA3/TANGO1 splice defects previously reported in humans and knockout mice. Common clinical features of these patients include generalized opalescent discoloration of the permanent dentition (intrinsic dyschromia), enamel defects, fractured teeth, vision loss, shortened physical stature, and orthopedic abnormalities that resulted in chronic, early-onset lameness. Intraoral radiography revealed delayed dentin deposition, evidence of endodontic disease, and dental hard tissue loss in both cases. Histopathologic findings for both cases were consistent with dentinogenesis imperfecta (DGI). DSRA exhibits autosomal recessive heritability and commercial diagnostic tests are now available. Clinicians should be aware of the etiopathogenesis, genetic inheritance and associated comorbidities in order to treat and counsel clients on the management of this condition. It is recommended that all breeding individuals be tested, and carriers be sterilized or omitted from the breeding population. This case study describes intraoral diagnoses, treatments, and follow-up of two DSRA-positive dogs.
PubMed: 38146186
DOI: 10.1177/08987564231215170 -
Puerto Rico Health Sciences Journal Dec 2023Mucopolysaccharidosis (MPS) is a metabolic disorder resulting from a deficiency of lysosomal enzymes. It is an autosomal recessive disorder with similar incidences in... (Review)
Review
Mucopolysaccharidosis (MPS) is a metabolic disorder resulting from a deficiency of lysosomal enzymes. It is an autosomal recessive disorder with similar incidences in men and women. Mucopolysaccharidosis type IV A is caused by a deficiency of N-acetylgalactosamine-6-sulfatase, which deficiency is, in turn, caused by alterations in the GALNS gene. It is marked by a short stature, a pigeon chest, frontal bossing, kyphosis, and a flat nasal bridge. Intraorally, macroglossia, hypodontia, dentinogenesis imperfecta, a broad mouth, and an anterior open bite are some of the common features. The present paper reports on a case of MPS in a 5-year-old male patient, along with providing a review of the literature and insight into the oral manifestations related to MPS IV A, also called Morquio A syndrome, and its dental treatment. It aims to highlight the clinical recommendations for oral health care in such cases during different phases of MPS IV A treatment.
Topics: Male; Humans; Child; Female; Child, Preschool; Mucopolysaccharidosis IV; Chondroitinsulfatases; Delivery of Health Care
PubMed: 38104293
DOI: No ID Found