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Author Vandersteen, Anthony M. ♦ Lund, Allan M. ♦ Ferguson, David J. P. ♦ Sawle, Philip ♦ Pollitt, Rebecca C. ♦ Holder, Susan E. ♦ Wakeling, Emma ♦ Moat, Neil ♦ Pope, F. Michael
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Chemistry & allied sciences ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Genetics and evolution ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Human physiology ♦ Pharmacology and therapeutics ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Musculoskeletal System ♦ Cardiovascular System ♦ Sense Organs ♦ Integumentary System ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Musculoskeletal Diseases ♦ Cardiovascular Diseases ♦ Diseases ♦ Macromolecular Substances ♦ Chemicals and Drugs ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Genetic Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Bone And Bones ♦ Pathology ♦ Collagen Type I ♦ Genetics ♦ Heart Valve Diseases ♦ Etiology ♦ Mutation ♦ Osteogenesis Imperfecta ♦ Complications ♦ Adult ♦ Child ♦ Female ♦ Diagnosis ♦ Heart Ventricles ♦ Humans ♦ Joint Instability ♦ Male ♦ Middle Aged ♦ Pedigree ♦ Sclera ♦ Abnormalities ♦ Skin ♦ Ultrastructure ♦ Case Reports ♦ Journal Article
Abstract Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts, showing structurally abnormal collagen type I, skin biopsy showed unusual histology and abnormal collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery.
Description Country affiliation: United kingdom
Author Affiliation: Vandersteen AM ( Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, United Kingdom.)
ISSN 15524825
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article ♦ Case study
Publisher Date 2014-02-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 2

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Source: WHO-Global Index Medicus