Chondrodysplasia Blomstrand

Chondrodysplasia Blomstrand is a rare genetic disorder characterized by a mutation of the parathyroid hormone receptor, leading to the absence of a functional PTHR1. This condition causes abnormal ossification of the endocrine system and intermembranous tissues,[1] along with accelerated skeletal maturation.[2]

Chondrodysplasia Blomstrand
Other namesBlomstrand's lethal chondrodysplasia
This condition is inherited in an autosomal recessive manner.

References
  1. Bilezikian, John P.; Raisz, Lawrence G.; Martin, T. John Martin (2008). Principles of Bone Biology. Academic Press. p. 610. ISBN 9780123738844.
  2. Glorieux, Francis H.; Pettifor, John M.; Jüppner, Harald (2011). Pediatric Bone: Biology & Diseases. Academic Press. p. 46. ISBN 9780123820402.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.