Osteogenesis Imperfecta: A Review with Clinical Examples
نویسندگان
چکیده
منابع مشابه
Osteogenesis Imperfecta: A Review with Clinical Examples.
Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to prenatal fractures. The first scientific description of OI dates from 1788. Since then, important milestones in OI research and treatment have, among others, been the classification of OI into 4 types (the 'Sillence classification'), the discov...
متن کاملOsteogenesis Imperfecta Tarda. A Review with Case Reports
S. |NIYOGI, m.b. (Cal.) Surgical Registrar,"Nilratan Sarkar Medical College Hospitals, Calcutta Osteogenesis imperfecta tarda is one variety a clinical syndrome which has been given various names such as fragilitas ossium, idiopathic osteopsathyrosis, periosteal dysplasia, etc. Thomson (1921) divided it into two broad clinical types?preand post-natal. Pre-natal cases are more severe and often t...
متن کاملOsteogenesis imperfecta--clinical and molecular diversity.
Osteogenesis imperfecta is a heritable disorder of bone formation resulting in low bone mass and a propensity to fracture. It exhibits a broad range of clinical severity, ranging from multiple fracturing in utero and perinatal death to normal adult stature and a low fracture incidence. The disorder is currently classified into seven types based on differences in clinical presentation and bone a...
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 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 ...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2011
ISSN: 1661-8777,1661-8769
DOI: 10.1159/000332228