The authors present a case of osteogenesis imperfecta, emphasizing the clinical and epidemiological characteristics, forms of classification and treatment of the. In the hypomineralised form e and f the enamel is rough, soft and discoloured. Individuals with this disorder tend to have teeth that are weaker than normal, which leads to. Sasmita, 201, 5amelogenesis imperfecta in permanent dentition.
A threeandahalfyearold male patient presented to the pediatric department of dental school. Dentinogenesis imperfecta di or hereditary opalescent dentin, was first. Osteogenesis imperfecta the medical biochemistry page. Amelogenesis imperfecta ai encompasses a complicated group of conditions that demonstrate developmental alterations in the structure of the enamel in the absence of a systemic disorder.
Various enamel defects both hypoplastic and hypomineralised may coexist in the same patient or even the same tooth f. Differential diagnosis must be made with enamel developmental defects caused by environmental factors fluoride, tetracycline or traumatic etiologies as they will only affect defined teeth and rarely both dentitions. Case report introduction osteogenesis imperfecta oi is a heritable disorder of connective tissue. Report on a case of fibrogenesis imperfecta ossium and a.
Management of osteogenesis imperfecta in pregnancy. A case report with 17 years of followup2 successfully treated when the patient was 3 to 19 years of age. Oi is a genetic disorder, characterized by bones that are brittle and break easily. Genetics of osteogenesis imperfecta clinical presentation. Primary and permanent teeth are concerned with almost the same severity. Ai has several names such as hereditary enamel dysplasia, hereditary brown. Osteogenesis imperfecta oi is a genetic disease characterized by fragile bones, skeletal deformities and, in severe cases, prenatal death that affects more than 1 in 10,000 individuals. In dgiii, both dentitions may be affected, but wear due to attrition is more intensive in the primary dentition than the permanent dentition bouvier et al. Abstract osteogenesis imperfecta oi is a rare genetic disorder of the bones. Cause osteogenesis imperfecta is a genetic disease, and the inheritance pattern is usually autosomal dominant. An interdisciplinary approach for hypoplastic amelogenesis.
Review of literature with a case report vijender khokhar1, bhawna gupta2 1,2 post graduate student, department of pedodontics and preventive dentistry, govt dental college and hospital patiala, punjab a r t i c l e i n f o keywords. Restoring aesthetics and function in a young boy with hypomature. The prevalence of this condition has been expected to range from 1 in 718 to 1 in 14,000, depending on the population studied. The rarity is such that gain and lawson report an incidence of one in 7,951 deliveries while other authors cite even higher statistical ratios. Osteogenesis imperfecta oi is a genetic disorder characterized by bones that break easily.
Chan1 inheritance patterns and its prevalence varies from 1. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that. Amelogenesis imperfecta is a rare genetic disease affecting enamel. This case report describes full mouth rehabilitation of a patient with ai. The aim of this report was to show the clinical and radiographic. Garg 1 the indian journal of pediatrics volume 32, pages 106 109 1965 cite this article. Cardiovascular operation in cases with oi have been associated with a high mortality rate. Clinical features of patients with ai depend on the type of ai involved. Dentinogenesis imperfecta is a rare structural anomaly that is not frequently encountered in an orthodontic office. Amelogenesis imperfecta is a group of rare genetic conditions in which the outer layer of the teeth enamel fails to develop properly. Amelogenesis imperfecta is a hereditary developmental disorder of the dental enamel, in both primary and permanent dentition. A 21yearold japanese woman who had no specific medical history consulted a primary care clinic.
We presented here four case reports of ai hypoplastic and hypomaturation which we diagnosed on the basis of classical clinical and radiographic features. Client case study about the oi foundation the osteogenesis imperfecta foundation oi foundation. European journal of paediatric dentistry 32003 149 case report. Osteogenesis imperfecta oi commonly know as brittle bone syndrome.
It is caused by mutations in the collagen, type i, alpha 1 and collagen type i alpha 2 genes, which encode the alpha 1 and the alpha 2 chain of type i procollagen, respectively. Fibrogenesis imperfecta is an extremely rare acquired progressive bone disorder of unknown etiology. Osteogenesis imperfecta is a hereditary pathology characterized by the osseous fragility, which causes increasing severe deformities in patients. He was admitted to the new born special care unit nbscu 10 min after birth for inability to cry at birth, multiple deformities with.
Amelogenesis imperfecta ai represents structural developmental defect of tooth enamel having complex inheritance pattern. A case report, international journal of clinical case reports, vol. Case cardiac reoperation in a patient with osteogenesis. This is an important case not only to the knowledge of pediatricians and orthopedists, but also for other professionals involved with the problem. Amelogenesis imperfecta may be part of a syndrome as in f, a case of amelogenesis imperfecta and cone rod dystrophy.
An adult case of nephrotic syndrome presenting with. Prenatal diagnosis of osteogenesis imperfecta type ii. In 1835, lobstein coined the term osteogenesis imperfecta and was one of the first to correctly understand the etiology of the condition. People with amelogenesis imperfecta will have small, yellow. Client case study osteogenesis imperfecta foundation. A 26 yearold pregnant woman, black, married, housewife, previously healthy, in her third pregnancy, was referred with 29 weeks and five days of gestation to the fetal medicine service of the university hospital of santa maria, due to hypothesis of intrauterine growth. It is well known among nephrologists, however, that this possibly lethal complication very rarely occurs before the diagnosis of nephrotic syndrome. Amelogenesis imperfecta is a hereditary disorder of enamel. The authors present a case of osteogenesis imperfecta, emphasizing the clinical and epidemiological characteristics, forms of classification and treatment of the disease. Osteogenesis imperfecta oi is a group of rare inherited disorders of connective tissue with the common feature of excessive fragility of bones. Background the fundamental therapeutic problems related to amelogenesis imperfecta treatment are governed by the need to effect primary.
Osteogenesis imperfecta case study by angela chapman on prezi. Four types of osteogenesis imperfecta were originally described by sillence in 1979, and are now used broadly as the sillence criteria. Osteogenesis imperfecta oi may be caused by changes mutations in any of several genes. Amelogenesis imperfecta ai is a rare hereditary disorder which causes structural anomalies in dental enamel 1, 2.
Sudhir bhandari, karneev pannu department of prosthodontics, hsj institute of dental sciences and hospital, panjab university, chandigarh, india click here for correspondence address and email. Case study article pdf available in operative dentistry 425. In this report, we document a novel approach to bonding ai enamel by. The elbow joint is relatively spared, however the humeral head is flattened and deformed. The present case report describes patients diagnosed with three types of al. Dentinogenesis imperfecta di is a type of dentin dysplasia that affects the dentin structure of one or both dentitions, which may be classified in three types. Dental management of a child with dentinogenesis imperfecta ncbi. Markedly deformed bones, with bowing and evidence of previous fractures, best seen in the midshaft of the radius and ulna. Amelogenesis imperfecta, hypoplastic, hypocalcified, hypomaturation introduction amelogenesis imperfecta al is a heterogeneous hereditary anomaly that disrupts enamel tissue. Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored most often bluegrey or yellowbrown in color.
A case report with clinical, light microscopic, radiographic and electron microscopic observations. It is seen that affected patients report for dental services because of high degree of. Osteogenesis imperfecta genetics home reference nih. Xrays of the left forearm obtained though a backslab demonstrate a fracture of the ulna and radius on the background of abnormally shaped bones. Medical records confirmed that no such cases have been reported for at least two years prior to this.
Amelogenesis imperfecta, hypoplastic type associated with some. Mutations in the col1a1 and col1a2 genes cause approximately 90 percent of all cases. Findings are consistent with the known diagnosis of osteogenesis imperfecta. Osteogenesis imperfecta appears to have a definite familial and hereditary tendency. Centre, ghaziabad, uttar pradesh, india, 2postgraduate student, department of orthodontics and dentofacial orthopaedics, shree bankey. Kim and simmer4 described the etiology of dentinogenesis imperfecta as a defect in the gene that codes for most. Prenatal diagnosis of osteogenesis imperfecta type 2. This case report of the treatment of a patient with this condition is presented in the hope that it will add to the knowledge of this hereditary condition. In its course, normal bone architecture is replaced at sites by structurally unsound collagendeficient tissue resulting in a disorganized bone structure and a skeleton that is radically susceptible to deformity and fracture. In addition to fractures broken bones, people with oi sometimes have muscle weakness, loose joints joint laxity, curvature of the spine scoliosis, brittle teeth. Osteogenesis imperfecta can be caused by mutations in one of several genes.
Case report 35yearold g2p1 came to our clinic for the first trimester ultrasound scan. Restoring aesthetics and function in a young boy with hypomature amelogenesis imperfecta. Sem images of the affected enamel and dentin were also analyzed. Bruck syndrome osteogenesis imperfecta with congenital joint contractures. We report a particular observation of 16 year old adolescent boy who presented with tardy form of osteogenesis imperfecta. Clinical manifestations of osteogenesis imperfecta in adulthood. Osteogenesis imperfecta oi is a disorder of bone fragility chiefly caused by mutations in the col1a1 and col1a2 genes that encode type i procollagen. Osteogenesis imperfecta oi is a genetic disorder that is characterized by recurrent fractures, low bone mass, blue sclera and dentinogenesis. These genes provide instructions for making proteins that are used to assemble type i collagen. According to some authors, the reestablishment of vertical dimension should be performed immediately 3, as in this present case report. Oi is most commonly due to a variation mutation in either the collagen genes col1a1 or col1a2 gene, which cause oi types i through iv. This means an affected person will have osteogenesis imperfecta even though only one faulty gene has been genetically received. The most common causes and cases of oi are inherited as autosomal dominant diseases, those being.
Oral rehabilitation of a child with dentinogenesis imperfecta case report composite with acetate crowns because this was a more conservative approach not requiring large preparations. How to be productive at home from a remote work veteran. Amelogenesis imperfecta, oral rehabilitation, glass ionomer. International journal of cynecology a obstetrics 1998. Osteogenesis imperfecta oi is an inherited genetic bone disorder that is present at birth. Dentinogenesis imperfecta genetic and rare diseases.
Amelogenesis imperfecta ai, a group of hereditary diseases affecting the tooth enamel in either quality or quantity, is associated with crown malformation and abnormal enamel density. Pulmonary artery thrombosis is one of the most important complications in patients with nephrotic syndrome. Oral rehabilitation of a child with dentinogenesis. The diagnosis of two cases of osteogenesis imperfecta, which is a rare form of congenital skeletal anomaly in a space of one month in this young tertiary institution inspired this write up. The earliest known case of osteogenesis imperfecta oi is in a partially mummified infants skeleton from ancient egypt now housed in the british museum in london. Autosomal recessive rough hypoplastic amelogenesis imperfecta.
974 1572 341 856 1606 437 768 371 789 665 918 250 698 92 484 1139 1209 1366 1683 648 1011 566 160 372 497 1272 368 293 528 89 1577 1152 1633 628 1080 549 529 1299 1188 748 1385 397 180 1068 186 566