親子に発症した骨形成不全症の一家系

DOI

書誌事項

タイトル別名
  • Report of Familial Occurrence of Osteogenesis Imperfecta

この論文をさがす

抄録

Case 1: A seven year old proband girl experienced frequent pathologic fractures of her legs. An examination revealed that she was of short stature and had blue sclerae, varus deformities of the thighs, and a thin cortex and sparse trabeculation of cancellous bones. However, dentinogenesis imperfecta, otosclerosis, and arthrochalasis were not noted.<br>Case 2: The thirty-nine year old father of the proband also had a history of very frequent pathologic fractures of his legs. An examination revealed a marked short stature, and deformed legs. However, other concomitant anomalies were not observed.<br>A family study revealed no further cases, suggesting a mutant occurrence in Case 2, with a dominant inheritance to Case 1, and the possible future inheritance to the future female offsprings of Case 1.

収録刊行物

詳細情報 詳細情報について

問題の指摘

ページトップへ