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

Yemina Warshaver, Cynthia Bearer, Deborah A Belchis

Research output: Contribution to journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)425-431
Number of pages7
JournalFetal and Pediatric Pathology
Volume12
Issue number3
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • Collagen
  • Ebstein's anomaly
  • Osteogenesis imperfecta

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

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