• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제46권1호
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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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• 제4권1호
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• pp.157-163
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• 1987

저자들은 7세 여아에서 골형성 부전증으로 우측경골에 심한 전방만곡을 절골술 및 수내고정법으로 교정하였다.

• Journal of Chest Surgery
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• 제52권3호
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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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• 제25권4호
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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.

• 대한청각학회지
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• 제25권4호
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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.

• 대한치과의사협회지
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• 제46권7호
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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.

• 대한소아치과학회지
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• 제27권1호
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• pp.1-6
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• 2000

상아질 형성 부전증은 상아질 형성에 이상을 초래하는 유전성 질환으로, 주로 상염색체 우성의 양상으로 유전된다. 제1형의 상아질 형성 부전증은 골 형성 부전증 환자에서 나타난다. 제2형 상아질 형성 부전증은 골 형성 부전증과 연관되지 않고 단독으로 나타난다. 제3형 상아질 형성 부전증은 brandywine type이라고도 하는데, 이 유형은 매우 드물며 상염색체 우성에 의해 유전되고, Maryland 주에 사는 한정된 민족에서 관찰된다. 세가지 모든 유형에서 유치열과 영구치열 모두 다양한 임상 양상을 나타낸다. 치아는 유백색을 띠고, 청회색에서 황갈색까지 다양하게 변색되어 있다. 상아질은 비정상적으로 연하고, 상부의 법랑질을 기능적으로 지지하지 못한다. 비록 법랑질이 정상이고 해도, 쉽게 파절되어 떨어져나가, 교합면이나 절단면쪽 상아질이 노출된다. 노출된 유약 상아질은 쉽고, 빠르게 심한 교모를 일으킨다. 치아는 구형의 치관과 협소화된 백악-법랑 경계 그리고 가는 치근을 나타낸다. 치수강과 치근관은 다양한 정도의 폐쇄상을 나타낸다. 백악질, 치주인대, 그리고 치조골은 정상 소견을 나타낸다. 상아질 형성 부전증에서 법랑질은 정상이다. 법랑질은 직하방의 mantle dentin은 거의 정상적이나, 나머지 상아질은 심각한 정도의 이형성을 나타낸다. 상아세관은 방향성을 상실하여 불규칙적이며, 정상보다 더 크고 공간도 넓다.

• 대한생식의학회:학술대회논문집
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• 대한불임학회 2005년도 제49차 추계학술대회
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• pp.110-110
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• 2005

• 대한생식의학회:학술대회논문집
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• 대한생식의학회 2007년도 제53차 추계학술대회 초록집
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• pp.106.2-107
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• 2007

• BMB Reports
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• 제42권2호
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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.