elastin and Osteogenesis-Imperfecta

elastin has been researched along with Osteogenesis-Imperfecta* in 3 studies

Reviews

1 review(s) available for elastin and Osteogenesis-Imperfecta

ArticleYear
Disorders of connective tissue metabolism as related to the skin.
    Birth defects original article series, 1981, Volume: 17, Issue:2

    Topics: Collagen; Connective Tissue Diseases; Cutis Laxa; Ehlers-Danlos Syndrome; Elastin; Fibronectins; Humans; Marfan Syndrome; Metabolism, Inborn Errors; Osteogenesis Imperfecta; Prenatal Diagnosis; Proteoglycans; Skin

1981

Other Studies

2 other study(ies) available for elastin and Osteogenesis-Imperfecta

ArticleYear
Aortic elastin abnormalities in osteogenesis imperfecta type II.
    Collagen and related research, 1986, Volume: 6, Issue:5

    Skin and aortic samples from two patients who died by lethal perinatal Osteogenesis Imperfecta (O.I.) were studied by optical and electron microscopy and compared with similar samples from two normal human fetuses and one newborn child. No significant abnormalities were observed in the dermis of O.I. patients apart from small differences in the diameter of reticular collagen fibrils. On the contrary, in the aortas of both patients collagen fibrils were significantly smaller than in the controls; moreover, elastin lamellae were deeply altered and consisted of roundish aggregates of elastin, massively permeated by cytochemically recognizable glycosaminoglycans. As identical features were described in experimental lathyrism by using inhibitors of the enzyme lysyl oxidase (Pasquali Ronchetti et al., 1984), the conclusion is reached that in the two cases of lethal perinatal O.I. examined, a severe lysyl oxidase deficiency could account for the observed ultrastructural abnormalities of elastin and that, besides defects of collagen type I, additional alterations of cellular metabolism might be responsible for the clinical heterogeneity of the disease.

    Topics: Aorta; Collagen; Connective Tissue; Elastic Tissue; Elastin; Humans; Microscopy, Electron; Osteogenesis Imperfecta; Skin

1986
[Otosclerotic syndromes with hereditary disorders of collagen].
    Ceskoslovenska otolaryngologie, 1971, Volume: 20, Issue:1

    Topics: Aorta; Collagen Diseases; Ectodermal Dysplasia; Elastin; Female; Glycosaminoglycans; Hearing Disorders; Humans; Male; Osteitis Deformans; Osteitis Fibrosa Cystica; Osteogenesis Imperfecta; Otosclerosis; Racial Groups

1971