Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV

2000 ◽  
Vol 106 (6) ◽  
pp. 605-613 ◽  
Author(s):  
Anick De Vos ◽  
Karen Sermon ◽  
Hilde Van de Velde ◽  
Hubert Joris ◽  
Mark Vandervorst ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Type Iv ◽  
Osteogenesis Imperfecta Type I

Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV

2000 ◽  
Vol 106 (6) ◽  
pp. 605-613 ◽  
Author(s):  
Anick De Vos ◽  
Karen Sermon ◽  
Hilde Van de Velde ◽  
Hubert Joris ◽  
Mark Vandervorst ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Type Iv ◽  
Osteogenesis Imperfecta Type I

Osteogenesis Imperfecta and Other Disorders with Decreased Bone Density

2018 ◽  
pp. 497-556
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Bone Density ◽  
Osteogenesis Imperfecta ◽  
Clinical Findings ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Type Iv ◽  
Bruck Syndrome ◽  
Carpenter Syndrome ◽  
Type V ◽  
Osteogenesis Imperfecta Type I

This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I

Bone ◽  
2019 ◽  
Vol 127 ◽  
pp. 646-655 ◽  
Author(s):  
Yi Liu ◽  
Jianhai Wang ◽  
Shuo Liu ◽  
Mingjie Kuang ◽  
Yaqing Jing ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Murine Model ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Transgenic Murine Model ◽  
Brittle Bones ◽  
Osteogenesis Imperfecta Type I

scholarly journals Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I

2014 ◽  
Vol 99 (2) ◽  
pp. E356-E362 ◽  
Author(s):  
Louis-Nicolas Veilleux ◽  
Martin Lemay ◽  
Annie Pouliot-Laforte ◽  
Moira S. Cheung ◽  
Francis H. Glorieux ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Muscle Function ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

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.

Osteogenesis Imperfecta Type I: Recognition in Primary Care

2018 ◽  
Vol 14 (6) ◽  
pp. 470-476
Author(s):  
Rexanna L. Tatlock ◽  
Nancy Edwards ◽  
Erik A. Imel ◽  
Karen J. Foli
Keyword(s):  
Primary Care ◽  
Osteogenesis Imperfecta ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I
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