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 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]

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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Classification	D ICD-10: Q78.8 OMIM: 215045 MeSH: C537914 C537914, C537914
External resources	Orphanet: 50945

Chondrodysplasia Blomstrand
Other names	Blomstrand's lethal chondrodysplasia

This condition is inherited in an autosomal recessive manner.