Cardiovascular involvement in osteogenesis imperfecta.

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Cardiovascular Involvement in Children with Osteogenesis Imperfecta

OBJECTIVE Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients....

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Cardiovascular Abnormalities in Osteogenesis Imperfecta.

THE GROUP of diseases characterized by McKusick as generalized "heritable disorders of connective tissue" includes the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, the Hurler syndrome, and pseudoxanthoma elasticum. With the exception of osteogenesis imperfecta, all of these have been known to involve significant cardiovascular abnormalities.' The Marfan syndrome is freq...

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Osteogenesis 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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Osteogenesis imperfecta.

Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may singl...

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A 42-year-old premenopausal woman with osteogenesis imperfecta presents to the metabolic bone clinic. She has a daughter with osteogenesis imperfecta who is seen regularly in a specialist pediatric clinic, but the patient herself hasn't had a clinical consultation in years. She has pain and stiffness in her back and is worried for her future bone health. The patient asks, "Am I going to fall ap...

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ژورنال

عنوان ژورنال: Circulation

سال: 1986

ISSN: 0009-7322,1524-4539

DOI: 10.1161/01.cir.73.1.54