Chondrodysplasia Blomstrand
Chondrodysplasia Blomstrand is a rare disorder caused by mutation of the parathyroid hormone receptor resulting in the absence of a functioning PTHR1. It results in ossification of the endocrine system and intermembraneous tissues[1] and advanced skeletal maturation.[2]
| 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. | |
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.
External links
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