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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. ...
Moreover, patients with non-collagen I gene mutations were least susceptible to blue sclerae and had the highest fracture freq …
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC. Burkitt Wright EM, et al. Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Orphanet J Rare Dis. 2013. PMID: 23642083 Free PMC article. Review.
Clinical features include extreme corneal thinning with rupture, high myopia, blue sclerae, deafness of mixed aetiology with hypercompliant tympanic membranes, and variable skeletal manifestations. ...
Clinical features include extreme corneal thinning with rupture, high myopia, blue sclerae, deafness of mixed aetiology with h …
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. ...
Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfe …
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. ...New therapies with other anti-resorptives as well as anabolic agents and transformi …
In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imp …
Osteogenesis imperfecta in childhood: treatment strategies.
Engelbert RH, Pruijs HE, Beemer FA, Helders PJ. Engelbert RH, et al. Arch Phys Med Rehabil. 1998 Dec;79(12):1590-4. doi: 10.1016/s0003-9993(98)90426-9. Arch Phys Med Rehabil. 1998. PMID: 9862306 Review.
Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable degrees of short stature, and progressive skeletal deformities. Additional clinical manifestations such as blue sclerae, dent …
Osteogenesis imperfecta (OI) is a skeletal disorder of remarkable clinical variability characterized by bone fragility, osteopenia, variable …
Genotype-phenotype study in type V osteogenesis imperfecta.
Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC, Wagner BE, Arundel P, Offiah A, Bishop NJ. Balasubramanian M, et al. Clin Dysmorphol. 2013 Jul;22(3):93-101. doi: 10.1097/MCD.0b013e32836032f0. Clin Dysmorphol. 2013. PMID: 23612438
All four patients in this study appear to have similar clinical features and facial dysmorphism, including a short, up-turned nose, a small mouth, a prominent chin and greyish-blue sclerae. Skin biopsy in one patient showed clumping of elastic fibres and normal bioc …
All four patients in this study appear to have similar clinical features and facial dysmorphism, including a short, up-turned nose, a small …
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. ...
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, an …
Three-dimensional ultrasound in the prenatal diagnosis of osteogenesis imperfecta.
Tsai PY, Chang CH, Yu CH, Cheng YC, Chang FM. Tsai PY, et al. Taiwan J Obstet Gynecol. 2012 Sep;51(3):387-92. doi: 10.1016/j.tjog.2012.07.012. Taiwan J Obstet Gynecol. 2012. PMID: 23040922 Free article.
OBJECTIVE: Fetal osteogenesis imperfecta (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue sclerae, deafness, and dentinogenesis imperfecta. Ultrasonography is acknowledged as a reliable diagnostic modality for the prenatal di …
OBJECTIVE: Fetal osteogenesis imperfecta (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue …
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients....
Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat …
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.
Clinical manifestations include increased bone fragility and blue sclerae. OI type III is the most severe form with fractures occurring already in utero. ...Pamidronate therapy had a positive impact on functional parameters such as independence in everyday ac …
Clinical manifestations include increased bone fragility and blue sclerae. OI type III is the most severe form with fractures …
11 results