Dyggve-Melchior-Clausen dysplasia. Morphological and biochemical findings in cartilage growth zones

Acta paediatrica Scandinavica
B EngfeldtB Wikström

Abstract

The results of light and electron microscopic examination and of biochemical proteoglycan studies of costochondral and iliac crest biopsies from a recently diagnosed case of Dyggve-Melchior-Clausen dysplasia are reported. At light microscopy of resting cartilage large lacunae containing clusters of five or more chondrocytes were seen in some areas. In the hyaline cartilage there were scattered fibrous foci but no mineralized areas. Electron microscopy revealed chondrocytes containing widened cisternae of rough endoplasmic reticulum and vesicles coated with a smooth single-layered membrane. The content of the cisternae and of the vesicles was amorphous. Throughout the cartilage a considerable proportion of the chondrocytes displayed more or less pronounced necrobiotic changes. The biochemical analysis showed an increased amount of glucosaminoglycans in the cartilage and indicated that the ability of proteoglycan monomers to reaggregate to hyaluronic acid chains was decreased. Our findings support the suggestion that Dyggve-Melchior-Clausen dysplasia is due to a disturbance in proteoglycan metabolism.

References

Jan 1, 1979·American Journal of Medical Genetics·S P ToledoE Mattar
Jul 1, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·S C RastogiH V Dyggve
Jan 1, 1977·AJR. American Journal of Roentgenology·S SchorrM El-Masri
Sep 1, 1979·Scandinavian Journal of Clinical and Laboratory Investigation·A HjerpeB Engfeldt
Feb 1, 1975·Radiology·J SprangerV M Der Kaloustian
Aug 30, 1976·Human Genetics·J SprangerJ Herrmann
Aug 1, 1970·Clinica Chimica Acta; International Journal of Clinical Chemistry·J ClausenJ C Melchior
Feb 1, 1973·The Biochemical Journal·P Whiteman
Jun 1, 1970·Experimental Cell Research·T CasperssonC Johansson
May 1, 1982·Acta paediatrica Scandinavica·B EngfeldtB Wikström
Oct 1, 1962·Archives of Disease in Childhood·H V DyggveJ Clausen

❮ Previous
Next ❯

Citations

Jan 1, 1987·Skeletal Radiology·M A Hall-Craggs, M Chapman
Jan 25, 2002·Journal of Neurosurgery·Frank KandzioraThomas Mittlmeier
Oct 15, 2008·Proceedings of the National Academy of Sciences of the United States of America·Anna B OsipovichH Earl Ruley

❮ Previous
Next ❯

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.