❹大多数产前病例是II型和III型: II型:四肢短和肋骨多发性骨折,颅骨骨化不全 III型:多发性骨折,通常在出生时出现,导致脊柱侧弯和身材非常矮小。 临床:成骨不全是由COL1A1、COL1A2、CRTAP和P3H1基因突变引起的。II型、III型和IV型...
❹大多数产前病例是II型和III型: II型:四肢短和肋骨多发性骨折,颅骨骨化不全 III型:多发性骨折,通常在出生时出现,导致脊柱侧弯和身材非常矮小。 临床:成骨不全是由COL1A1、COL1A2、CRTAP和P3H1基因突变引起的。II型、III型和IV型的产前诊断可以通过侵入性测试进行。 大多数成骨不全病例都有常染色体显性遗传...
Taksande A, Vilhekar K, Khangare S. Osteogenesis imperfecta type II with congenital heart disease. Iran J Pediatr 2008; 18 (2): 275-8Taksande A, Vilhekar K, Khangare S. Osteogenesis imper- fecta Type II with congenital heart disease. Iran J Pediatr 2008;18:175-8....
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by suscept... L Dale,Bodian,Ting-Fung,... - 《Human Molecular Genetics》 被引量: 101发表: 2009年 Osteogenesis imperfecta type II: prenatal sonographic dia...
Osteogenesis imperfecta (OI) is in most cases a congenital disease of collagen type I with a remarkable variation in phenotype, ranging from severe forms t... Eva ?str?m - 《Paediatrics & Child Health》 被引量: 0发表: 2008年 Aortic Valve Regurgitation Aortic regurgitation (AR) may be cause...
Dinno ND, Yacoub UA, Kadlec JF, Garver KL. Midtrimester diagnosis of osteogenesis imperfecta, type II. Birth Defects 1982;18(3A): 125-32.Dinno ND, Yacoub UA, Kddkc JF, Garver KL (1982): Midtrimester diagnosis of osteogenesis imper- fecta, type 11. New York: Alan R. Liss, Inc, ...
Conclusion. This baby seems to have suffered from a lethal form of osteogenesis imperfecta, probably type IIA of Sillence.G. MoyenJ.L. NkouaM. PonguiA.M. Bemba-Locko MafoutaS. NzingoulaArchives Franaises De Pédiatrie
Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.doi:10.1203/00006450-198104001-00791Tsipouras, PetrosShields, Edward PSilberberg, DeborahFraser, F ClarkePediatric Research...
Y. Akizawa, Nishimura G, Hasegawa T, Takagi M, Kawamichi Y, Matsuda Y, Matsui H, Saito K. 2012. Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: The current state of fetal computed tomography. Congenit. Anom. (Kyoto). 52(4): 203-206....
Hypothesis: Type II collagen is synthesized in the tympanic membrane during healing of a perforation. The time course and appearance of Type II collagen regrowth in the newly healed tympanic membrane is the subject of the present study. Background: The arrangement of Type II collagen fibers in ...