Osteogenesis imperfecta and ebstein's anomaly: A case report with autopsy findings

Yemina Warshaver; Cynthia Bearer; Deborah A Belchis

doi:10.3109/15513819209023321

Osteogenesis imperfecta and ebstein's anomaly: A case report with autopsy findings

Yemina Warshaver, Cynthia Bearer, Deborah A Belchis

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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..

Original language	English (US)
Pages (from-to)	425-431
Number of pages	7
Journal	Fetal and Pediatric Pathology
Volume	12
Issue number	3
DOIs	https://doi.org/10.3109/15513819209023321
State	Published - 1992
Externally published	Yes

Keywords

Collagen
Ebstein's anomaly
Osteogenesis imperfecta

ASJC Scopus subject areas

Pathology and Forensic Medicine
Pediatrics, Perinatology, and Child Health

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10.3109/15513819209023321

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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 = "Collagen, Ebstein's anomaly, Osteogenesis imperfecta",

author = "Yemina Warshaver and Cynthia Bearer and Belchis, {Deborah A}",

year = "1992",

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T1 - Osteogenesis imperfecta and ebstein's anomaly

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AU - Warshaver, Yemina

AU - Bearer, Cynthia

AU - Belchis, Deborah A

PY - 1992

Y1 - 1992

N2 - 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..

AB - 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..

KW - Collagen

KW - Ebstein's anomaly

KW - Osteogenesis imperfecta

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IS - 3

ER -

Osteogenesis imperfecta and ebstein's anomaly: A case report with autopsy findings

Abstract

Keywords

ASJC Scopus subject areas

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