• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.46 no.1
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• pp.70-77
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• 2020

Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.

• Journal of Yeungnam Medical Science
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• v.4 no.1
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• pp.157-163
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• 1987

Osteogenesis imperfecta has been categorized as a heritable disorder of connective tissue affecting both bone and soft tissues and is characterized by fragility of bone, blue sclerae, and deafness, less frequently by dentinogenesis imperfecta and laxity of ligament. The goals of orthopedic management with osteogenesis imperfecta are the treatment of acute fractures and long-term rehabilitation in an effort to maintain ambulation. We report a case of osteogenesis imperfecta with anterior bowing of tibia which was successfully corrected by multiple osteotomies and intramedullary fixation by Sofield method and reviewed literatures.

• Journal of Chest Surgery
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• v.52 no.3
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• pp.162-164
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• 2019

A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient's father had a history of recurrent lower extremity fractures; thus, osteogenesis imperfecta was considered. The patient's respiratory difficulty became aggravated, and VSD repair in the neonatal period was therefore performed with gentle sternal traction and great vessel manipulation under total intravenous anesthesia to prevent malignant hyperthermia. The patient was discharged without notable problems, except minor wound dehiscence. Outpatient genetic testing revealed that the patient had a COL1A1/COL1A2 mutation.

• Journal of Audiology & Otology
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• v.25 no.4
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• Korean Journal of Audiology
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• v.25 no.4
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• The Journal of the Korean dental association
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• v.46 no.7
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• pp.440-445
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• 2008

Dentinogenesis imperfecta is one of the most common autosomal dominant traits experienced in humans. It generally affects both the deciduous and permanent dentitions. There are 3 forms of dentinogenesis imperfecta that have been classified into type I(osteogenesis imperfecta associated), type II(hereditary opalescent dentin), and type III(Brandywine isolate opalescent dentin).1,2 The prevalence for all types of dentinogenesis imperfecta is approximately 1 per 8000 subjects. Early diagnosis and treatment are therefore, fundamental, aiming at obtaining a favourable prognosis since late intervention makes treatment more complex. This clinical report describes a treatment solution to the problems encountered by a dentinogenesis imperfecta patient with minimally invasive techniques.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.1
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• pp.1-6
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• 2000

Dentinogenesis imperfecta is an inherited disorder of dentin formation, usually exhibiting an autosomal dominant mode of transmission. Type I dentinogenesis imperfecta occurs in patients afflicted with osteogenesis imperfecta. Type II dentinogenesis imperfecta is not associated with osteogenesis imperfecta. Type III dentinogenesis imperfecta (Brandywine type) occurs in a racial isolate area in the state of Maryland. In all three types, teeth of both dentitions are affected with variable clinical appearances. The teeth are opalescent with the color ranging from bluish-gray to brown to yellowish. The dentin is abnormally soft, providing inadequate functional support to the overlying enamel. Although the enamel is normal, it fractures or chips away easily, exposing the occlusal and incisal dentin. The exposed soft dentin often undergoes rapid and severe functional attrition. The teeth exhibit bulb-shaped crowns with constricted cementoenamel junctions and thin roots. The teeth will exhibit varying stages of obliteration of the coronal and root pulpal chambers. The cementum, periodontal ligament and supporting alveolar bone appear normal. The enamel is normal. The mantle dentin remains nearly normal, whereas the remaining dentin is severely dysplastic. The dentinal tubules are disoriented, irregular, widely spaced, and usually larger than normal.

• 대한생식의학회:학술대회논문집
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• 2005.11a
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• pp.110-110
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• 2005

• 대한생식의학회:학술대회논문집
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• 2007.11a
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• pp.106.2-107
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• 2007

• BMB Reports
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• v.42 no.2
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• pp.86-90
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• 2009

Deletion of smpd3 induces osteogenesis and dentinogenesis imperfecta in mice. smpd3 is highly elevated in the parietal bones of developing mouse calvaria, but not in sutural mesenchymes. Here, we examine the mechanism of smpd3 regulation, which involves BMP2 stimulation of Runx2. smpd3 mRNA expression increased in response to BMP2 treatment and Runx2 transfection in C2C12 cells. The Runx2-responsive element (RRE) encoded within the -562 to -557 region is important for activation of the smpd3 promoter by Runx2. Electrophoretic mobility shift assays revealed that Runx2 binds strongly to the -355 to -350 RRE and less strongly to the -562 to -557 site. Thus, the smpd3 promoter is activated by BMP2 and is directly regulated by the Runx2 transcription factor. This novel description of smpd3 regulation will aid further studies of bone development and osteogenesis.