Chondrodysplasia Blomstrand

Chondrodysplasia Blomstrand
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

^ 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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[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.

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[2]

Chondrodysplasia Blomstrand
Other names	Blomstrand's lethal chondrodysplasia

This condition is inherited in an autosomal recessive manner.