Non-Syndromic Dentinogenesis Imperfecta Caused by Mild Mutations in COL1A2
نویسندگان
چکیده
منابع مشابه
Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.
Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 a...
متن کاملNovel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities
Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia (DD). The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP) cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI), a systemic disease typically caused by defects in COL1A1 or COL1A2...
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Case: A 13-year-old female patient presented with fever, disturbed consciousness, and convulsion. She had Jeune syndrome with mitral regurgitation and mental retardation. Cerebral hemorrhage, vegetation of mitral valve and poor oral hygiene demonstrated clinical definite diagnosis of IE by Duke Criteria. Bacterial aneurysm would cause to be cerebral hemorrhage that was no worsening by Computed ...
متن کاملOsteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.
Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone def...
متن کاملDentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases.
Osteogenesis imperfecta (OI) is a heritable systemic disorder of the connective tissue. Dentinogenesis imperfecta (DI), which is sometimes an accompanying symptom of OI, belongs to a group of genetically conditioned dentin dysplasias and is characterized clinically by an opalescent amber appearance of the dentin. Although the teeth of DI cases wear more easily and excessively compared to normal...
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ژورنال
عنوان ژورنال: Journal of Personalized Medicine
سال: 2021
ISSN: 2075-4426
DOI: 10.3390/jpm11060526