Zobrazeno 1 - 10
of 59
pro vyhledávání: '"OSTEOGENESIS IMPERFECTA CONGENITA"'
Publikováno v:
Journal of Radiation Medicine in the Tropics. 2:40
Osteogenesis imperfecta (OI), or brittle bone disease, is a rare disorder with congenital bone fragility caused by mutations in the genes. This case is reported because of its rarity and paucity in the literature in Nigeria. Available data on OI in B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1d90fca4b29351b44ba9fb0ee27853f
https://doi.org/10.4103/jrmt.jrmt_28_20
https://doi.org/10.4103/jrmt.jrmt_28_20
Autor:
Anders Hjerpe, Bengt Engfeldt
Publikováno v:
Acta Pathologica Microbiologica Scandinavica Section A Pathology. :488-494
Epiphyseal cartilage and bone tissue from two cases of osteogenesis imperfecta congenita and one control case with similar skeletal age were examined regarding their glycosaminoglycan content. The diseased bone tissue showed a 3-fold increase in glyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c285a0932b220b24d8e6bbd80a5adbb4
https://doi.org/10.1111/j.1699-0463.1976.tb00146.x
https://doi.org/10.1111/j.1699-0463.1976.tb00146.x
Publikováno v:
Clinical Genetics. 5:307-311
A case report is presented of a black mother and her son with osteogenesis imperfecta congenita. It is rare for the congenita form to survive and give birth to a similarly affected baby.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5755e9f870154c14de14cf29d55fa989
https://doi.org/10.1111/j.1399-0004.1974.tb01698.x
https://doi.org/10.1111/j.1399-0004.1974.tb01698.x
Publikováno v:
Clinical Genetics. 16:376-382
Mucopolysaccharide (MPS) metabolism in cultured skin fibroblasts was studied in one case of each of the following osteochondrodysplasias: chondrodysplasia punctata of the rhizomelic type, thanatophoric dysplasia, campomelic dysplasia, and osteogenesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99bd04937ebaa0e7884ef0a1ddc4636d
https://doi.org/10.1111/j.1399-0004.1979.tb01344.x
https://doi.org/10.1111/j.1399-0004.1979.tb01344.x
Publikováno v:
奈良医学雑誌. 41(3):261-264
We observed 2 cases of osteogensis imperfecta congenita. They were born after 38 weeks gestation, weighed less than 2,500g, and had blue sclera or short limbs. Their roentgenograms showed multiple fracture of the ribs and ostopenia in the skull. They
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::939149264ba65c35566ccad084f3812e
http://hdl.handle.net/10564/2063
http://hdl.handle.net/10564/2063
Publikováno v:
European journal of obstetrics, gynecology, and reproductive biology. 34(1-2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce713335bbb9fe964d33e8eb9f65f716
https://pubmed.ncbi.nlm.nih.gov/2406166
https://pubmed.ncbi.nlm.nih.gov/2406166
Autor:
Joan T. Zajtchuk, John R. Lindsay
Publikováno v:
Annals of Otology, Rhinology & Laryngology. 84:350-358
The temporal bone report of an operated case of osteogenesis imperfecta tarda is presented. Histological examination confirmed the presence of bilateral fixation of the footplate by otosclerosis as the cause of the conductive hearing loss. Fragility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb858733492a0f502389734157a39d3d
https://doi.org/10.1177/000348947508400311
https://doi.org/10.1177/000348947508400311
Autor:
D. Clemens, H.-J. Benz
Publikováno v:
RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren. 131:72-77
Two patients, aged 13 and 19 years, with osteogenesis imperfecta congenita (Vrolik) have been seen at the rehabilitation centre at Neckargemund. The younger patient showed the typical appearances of osteogenesis imperfecta cystica (Fairbank), while t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ca38d64fc95c8a68245aacce8e35b6c
https://doi.org/10.1055/s-0029-1231379
https://doi.org/10.1055/s-0029-1231379
Autor:
Sachio Ogita, Teruji Kamei, Masahiko Matsumoto, Tadafumi Shimamoto, Kentaro Shimura, Tomoaki Kawamura, Tadashi Sugawa
Publikováno v:
European Journal of Pediatrics. 123:179-186
By means of fetography, prenatal diagnosis of osteogenesis imperfecta congenita was performed on two pregnant women in the 34th week of gestation with familial histories of the disease. In 1 of the 2 cases, the fetogram revealed abnormal twisting of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ca7d1e34fb1452ed43793fd34a4540d
https://doi.org/10.1007/bf00452095
https://doi.org/10.1007/bf00452095
Publikováno v:
The Journal of Laryngology & Otology. 94:697-705
This temporal bone report describes the inner ear deformities which were found in addition to the bony pathology in a case of osteogenesis imperfecta congenita. The labyrinthine pathology includes anomalously positioned and enlarged vestibular spaces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa54ae6eb3493fdb94a435343b6fa31
https://doi.org/10.1017/s0022215100089465
https://doi.org/10.1017/s0022215100089465