Genetic heterogeneity in osteogenesis imperfecta.
نویسندگان
چکیده
منابع مشابه
Genetic heterogeneity in osteogenesis imperfecta.
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile cond...
متن کامل[Osteogenesis imperfecta: clinical and genetic heterogeneity].
Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients this is a consequence of diminished or abnormal production of collagen type I. It is a clinically heterogeneous disorder: it has been proposed recently to classify osteogenesis imperfecta in types I-V on the basis of the clinical picture an...
متن کاملHeterogeneity of osteogenesis imperfecta type I.
We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorders is increased by finding that the pa...
متن کاملOsteogenesis imperfecta
Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...
متن کاملOsteogenesis imperfecta: the molecular basis of clinical heterogeneity.
During the last six years we have attempted to determine the molecular basis of osteogenesis irnperfecta (01) by analyzing the collagenous proteins synthesized by dermal fibroblasts cultured from affected individuals, their parents, and other family members. During that time we have studied members of more than 400 unrelated families, or, we estimate, between one and five percent of all familie...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1979
ISSN: 1468-6244
DOI: 10.1136/jmg.16.2.101