Osteogenesis Imperfecta and Ebstein's Anomaly: A case Report with Autopsy Findings
- 1 January 1992
- journal article
- case report
- Published by Taylor & Francis in Pediatric Pathology
- Vol. 12 (3) , 425-431
- https://doi.org/10.3109/15513819209023321
Abstract
Osteogenesis imperfecta is an inherited disorder of collagen synthesis. It has a wide range of phenotypic expressions, but cardiovascular anomalies tend to be rare. When they do occur, they usually consist of aortic or mitral valve disease. We report an autopsy case of a 36-week gestation infant with coexisting osteogenesis imperfecta and Ebstein's anomaly. The simultaneous occurrence of two relatively rare entities may reflect a generalized expression of an underlying collagen synthesis defect.Keywords
This publication has 13 references indexed in Scilit:
- Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissueAmerican Journal of Medical Genetics, 1989
- Inherited disorders of collagen gene structure and expressionAmerican Journal of Medical Genetics, 1989
- Cardiovascular Pathology in Osteogenesis Imperfecta Type Iia with a Review of the LiteraturePediatric Pathology, 1988
- Cardiovascular abnormalities in osteogenesis imperfectaPublished by Elsevier ,1983
- Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta.Heart, 1975
- Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfectaThe American Journal of Cardiology, 1973
- Mitral valve disease and open heart surgery in osteogenesis imperfecta tarda.Heart, 1973
- Osteogenesis Imperfecta CongenitaAmerican Journal of Diseases of Children, 1970
- CONGENITAL HEART DISEASE (MITRAL REGURGITATION) IN OSTEOGENESIS IMPERFECTAAmerican Journal of Roentgenology, 1968
- Cardiovascular Abnormalities in Osteogenesis ImperfectaCirculation, 1965