Congenital disorders of bone and blood

Bone. 2019 Feb:119:71-81. doi: 10.1016/j.bone.2018.03.002. Epub 2018 Mar 6.


Bone and marrow are the two facets of the same organ, in which bone and hematopoietic cells coexist and interact. Marrow and skeletal tissue influence each-other and a variety of genetic disorders directly targets both of them, which may result in combined hematopoietic failure and skeletal malformations. Other conditions primarily affect one organ with secondary influences on the other. For instance, various forms of congenital anemias reduce bone mass and induce osteoporosis, while osteoclast failure in osteopetrosis prevents marrow development reducing medullary cavities and causing anemia and pancytopenia. Understanding the pathophysiology of these conditions may facilitate diagnosis and management, although many disorders are presently incurable. This article describes several congenital bone diseases and their relationship to hematopoietic tissue.

Keywords: Blood; Bone cells; Bone marrow; Congenital bone disorders; Osteoclast.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bone Diseases / congenital*
  • Bone Diseases / physiopathology
  • Bone Marrow / pathology
  • Bone Marrow / physiopathology
  • Bone and Bones / abnormalities
  • Bone and Bones / pathology
  • Bone and Bones / physiopathology
  • Hematologic Diseases / congenital*
  • Hematologic Diseases / physiopathology
  • Hematopoiesis
  • Humans
  • Osteoclasts / pathology