儿童骨密度遗传性疾病

Inherited diseases of bone density in children.

作者信息

Herman T E, McAlister W H

机构信息

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Radiol Clin North Am. 1991 Jan;29(1):149-64.

PMID:1985325

Abstract

In this article the radiographic manifestations of various genetic diseases predominately affecting bone mineralization are considered. Osteogenesis imperfecta and other diseases of diffuse osteopenia, hereditary rickets and rachiticlike conditions, and osteopetrosis and other diseases of increased bone density are emphasized. Recognition of the radiographic manifestations allows accurate diagnosis, therapeutic intervention when possible, and determination of recurrence risk for genetic counseling.

摘要

本文探讨了主要影响骨矿化的各种遗传性疾病的放射学表现。重点介绍了成骨不全和其他弥漫性骨质减少疾病、遗传性佝偻病及佝偻病样病症，以及骨质石化症和其他骨密度增加疾病。认识这些放射学表现有助于准确诊断、在可能的情况下进行治疗干预，并确定遗传咨询的复发风险。