Osteogenesis imperfecta type III and hypogonadotropic hypogonadism result in severe bone loss: a case report

2015 ◽  
Vol 165 (13-14) ◽  
pp. 285-289
Author(s):  
Fabian Plachel ◽  
Ursula Renner ◽  
Roland Kocijan ◽  
Christian Muschitz ◽  
Fritz Lomoschitz ◽  
...  
Keyword(s):  
Case Report ◽  
Bone Loss ◽  
Osteogenesis Imperfecta ◽  
Hypogonadotropic Hypogonadism ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii ◽  
Severe Bone Loss

scholarly journals Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature

2018 ◽  
Vol 6 (7) ◽  
pp. 1252-1257 ◽  
Author(s):  
Tetsuya Kawakita ◽  
Melissa Fries ◽  
Jasbir Singh ◽  
Huda B. Al-Kouatly
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Review Of Literature ◽  
Type Iii

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

NANOINDENTATION MEASUREMENT ON INTERSTITIAL AND OSTEON OF BONE WITH OSTEOGENESIS IMPERFECTA-TYPE III

2019 ◽  
Vol 42 (4) ◽  
pp. 168-171
Author(s):  
N. A. Azizan ◽  
K. S. Basaruddin ◽  
M. H. Mat Som ◽  
S. F. Khan ◽  
A. R. Sulaiman ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii ◽  
Nanoindentation Measurement

Type I Collagen Biosynthesis by Skin Fibroblasts from Patients with Idiopathic Juvenile Osteoporosis

1995 ◽  
Vol 89 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Andrew E. Pocock ◽  
Martin J. O. Francis ◽  
Roger Smith
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
The Other ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Unrelated Control ◽  
Type Iii ◽  
Collagen Peptides ◽  
Idiopathic Juvenile Osteoporosis ◽  
Osteogenesis Imperfecta Type I

1. Skin fibroblast lines were cultured from nine patients who had the features of idiopathic juvenile osteoporosis, six relatives, five unrelated control subjects and three unrelated patients with osteogenesis imperfecta type I. Some patients with idiopathic juvenile osteoporosis were adults whose previous osteoporosis was in remission. Two patients with idiopathic juvenile osteoporosis were siblings and one patient with idiopathic juvenile osteoporosis had a daughter with severe osteogenesis imperfecta (type III). 2. The ratio of type III to type I collagen, synthesized by fibroblasts, was increased in two of the patients with osteogenesis imperfecta type I and in the daughter with osteogenesis imperfecta type III, but was normal in all the other patients with idiopathic juvenile osteoporosis and the other relatives. 3. Radiolabelled collagen was digested by cyanogen bromide and separated on SDS-PAGE. Unreduced collagen peptides migrated normally, except those from both the two siblings with idiopathic juvenile osteoporosis. In these two lines, abnormal migration suggested the presence of collagen I mutations. 4. The secretion of synthesized collagen by these two idiopathic juvenile osteoporosis lines and two others was reduced to only 43–45% as compared with a line from a 13-year-old control subject, which was defined as 100%. The three osteogenesis imperfecta type I lines secreted 18–37%, the other five idiopathic juvenile osteoporosis lines secreted 57–75%, the relatives (including the daughter with severe osteogenesis imperfecta) secreted 49–115% and the controls secreted 69–102%. 5. We conclude that qualitative abnormalities of type I collagen associated with a reduction in total secreted collagen synthesis may occur in a minority of patients with idiopathic juvenile osteoporosis; these patients could represent a subset of patients with this disorder.

scholarly journals Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

1993 ◽  
Vol 30 (6) ◽  
pp. 492-496 ◽  
Author(s):  
G A Wallis ◽  
B Sykes ◽  
P H Byers ◽  
C G Mathew ◽  
D Viljoen ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Structural Genes ◽  
Type Iii

scholarly journals Preparation and dental surgical procedure in patients with osteogenesis imperfecta on the example of a 15-year-old patient with difficult tooth 38 eruption

2021 ◽  
Vol 11 (6) ◽  
pp. 77-85
Author(s):  
Małgorzata Lipczyńska-Lewandowska ◽  
Damian Chybicki ◽  
Gaja Torbicka ◽  
Anna Janas-Naze
Keyword(s):  
Osteogenesis Imperfecta ◽  
General Anesthesia ◽  
Female Patient ◽  
Surgical Procedure ◽  
Osteogenesis Imperfecta Type ◽  
Impacted Tooth ◽  
Type Iii ◽  
Surgical Extraction

The article presents a case of surgical extraction of a completely impacted tooth 38 under general anesthesia in a 15-year-old female patient with osteogenesis imperfecta, type III A.

Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

1994 ◽  
Vol 3 (3) ◽  
pp. 324-326 ◽  
Author(s):  
Katrina Mackay ◽  
Anne De Paepe ◽  
Lieve Nuytinck ◽  
Raymond Dalgleish
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Type Iii
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