Chondrodysplasia Blomstrand
(Redirected from Blomstrand syndrome)
| Chondrodysplasia Blomstrand | |
|---|---|
| Other names | Blomstrand's lethal chondrodysplasia |
 | |
| This condition is inherited in an autosomal recessive manner. | |
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]
References
[edit]- ^ Bilezikian, John P.; Raisz, Lawrence G.; Martin, T. John Martin (2008). Principles of Bone Biology. Academic Press. p. 610. ISBN 9780123738844.
- ^ Glorieux, Francis H.; Pettifor, John M.; Jüppner, Harald (2011). Pediatric Bone: Biology & Diseases. Academic Press. p. 46. ISBN 9780123820402.
External links
[edit]
 | This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it. |