Medicine:Chondrodysplasia Blomstrand
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| Chondrodysplasia Blomstrand | |
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| Other names | Blomstrand's lethal chondrodysplasia |
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| 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
- ↑ 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.
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