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Advances in the Classification and Treatment of Osteogenesis Imperfecta.
Thomas IH, DiMeglio LA. Thomas IH, et al. Curr Osteoporos Rep. 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. Curr Osteoporos Rep. 2016. PMID: 26861807 Review.
In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imperfecta, vascular fragility, and hearing loss. ...
In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imp …
Osteogenesis imperfecta.
Bhadada SK, Santosh R, Bhansali A, Upreti V, Dutta P. Bhadada SK, et al. J Assoc Physicians India. 2009 Jan;57:33-6. J Assoc Physicians India. 2009. PMID: 19753756
Eleven (55%) patients had dentiginous imperfecta (DI) and ten (50%) had blue sclerae at presentation. Impaired hearing was present in 1 patient only. ...CONCLUSION: Patients with OI presented late, predominantly with fracture of long bones, deformities and blue …
Eleven (55%) patients had dentiginous imperfecta (DI) and ten (50%) had blue sclerae at presentation. Impaired hearing was pre …
Osteogenesis imperfecta: diagnosis and treatment.
Burnei G, Vlad C, Georgescu I, Gavriliu TS, Dan D. Burnei G, et al. J Am Acad Orthop Surg. 2008 Jun;16(6):356-66. doi: 10.5435/00124635-200806000-00008. J Am Acad Orthop Surg. 2008. PMID: 18524987 Review.
Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta, hearing loss, and scoliosis. In 1979, Sillence classified the condition into four types based on genetic and clinical criteria. …
Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfe …
Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.
Wei S, Yao Y, Shu M, Gao L, Zhao J, Li T, Wang Y, Xu C. Wei S, et al. Endocr Pract. 2022 Aug;28(8):760-766. doi: 10.1016/j.eprac.2022.05.003. Epub 2022 May 9. Endocr Pract. 2022. PMID: 35550181 Free article.
Moreover, patients with non-collagen I gene mutations were least susceptible to blue sclerae and had the highest fracture frequency. Furthermore, there were some minor phenotypic differences among non-collagen I gene mutations. ...CONCLUSION: Our findings indicated …
Moreover, patients with non-collagen I gene mutations were least susceptible to blue sclerae and had the highest fracture freq …
Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.
Pecimonova M, Radvanszky J, Smolak D, Budis J, Lichvar M, Kristinova D, Rozova I, Turna J, Szemes T. Pecimonova M, et al. Medicine (Baltimore). 2021 Jun 4;100(22):e26136. doi: 10.1097/MD.0000000000026136. Medicine (Baltimore). 2021. PMID: 34087865 Free PMC article.
The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue sclerae, hydronephrosis, transversal palmar crease (found also in their father), and bilateral talipes equinovarus. ...These are …
The patient showed also distinct symptoms falling outside PVNH7 symptomatology, also present in the proband's older brother, such as blue …
New trends in the treatment of osteogenesis imperfecta type III - own experience.
Jakubowska-Pietkiewicz E, Chlebna-Sokół D. Jakubowska-Pietkiewicz E, et al. Ortop Traumatol Rehabil. 2008 Nov-Dec;10(6):593-601. Ortop Traumatol Rehabil. 2008. PMID: 19153548 English, Polish.
INTRODUCTION: Osteogenesis imperfecta (OI) is a genetic disorder caused by a mutation in the genes that encode the chains of type I collagen. Clinical manifestations include increased bone fragility and blue sclerae. ...CONCLUSION: Symptomatic bisphosphonate …
INTRODUCTION: Osteogenesis imperfecta (OI) is a genetic disorder caused by a mutation in the genes that encode the chains of type I collagen …
Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.
Garretsen TJ, Cremers CW. Garretsen TJ, et al. Ann N Y Acad Sci. 1991;630:240-8. doi: 10.1111/j.1749-6632.1991.tb19594.x. Ann N Y Acad Sci. 1991. PMID: 1952595
In 30 fully investigated family pedigrees in which there were at least two generations of people suffering from osteogenesis imperfecta type I (McKusick no. 16620), the data on 144 random offspring could be used for segregation analysis. The major characteristics, blue …
In 30 fully investigated family pedigrees in which there were at least two generations of people suffering from osteogenesis imperfecta type …
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
Kanno J, Saito-Hakoda A, Kure S, Fujiwara I. Kanno J, et al. J Bone Miner Metab. 2018 May;36(3):344-351. doi: 10.1007/s00774-017-0840-9. Epub 2017 May 20. J Bone Miner Metab. 2018. PMID: 28528406
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened th …
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, an …
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.
Ni X, Jin C, Jiang Y, Wang O, Li M, Xing X, Xia W. Ni X, et al. BMC Med Genet. 2020 Oct 31;21(1):214. doi: 10.1186/s12881-020-01154-3. BMC Med Genet. 2020. PMID: 33129265 Free PMC article.
Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. ...Laboratory examination revealed a slig …
Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue …
16 results