PMID: 1202551Oct 1, 1975Paper

Osteogenesis imperfecta. A clinical and biochemical study of a generalized connective tissue disorder

The Quarterly Journal of Medicine
R SmithR J Bauze

Abstract

The clinical features of 62 patients with the diagnosis of osteogenesis imperfecta, a generalized connective tissue disorder, have been reviewed. The structural polymeric collagen of the skin has been examined by biochemical and histological methods in 21 of these patients and in two further patients with osteogensis imperfecta who died soon after birth. The results provide evidence of heterogeneity within this group of patients. Three main types of disorder are recognizable: those patients with dominantly inherited mild bone disease, blue sclerae and low amounts of polymeric collagen; those who occur sporadically, with severe bone disease, normal coloured sclerae and polymeric collagen of reduced stability; and occasional infants with severe bone disease who die at birth or soon after and whose polymeric collagen appears to be abnormal. It is speculated that these differences could be due to distinct abnormalities of collagen metabolism.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Medical Genetics
P Tsipouras, F Ramirez
Journal of Insurance Medicine
R B SingerC R Paterson
The Journal of Bone and Joint Surgery. British Volume
C R PatersonR Miller
© 2022 Meta ULC. All rights reserved