Chondrodysplasia Blomstrand
Chondrodysplasia Blomstrand | |
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This condition is inherited in an autosomal recessive manner. |
Chondrodysplasia Blomstrand (also known as Blomstrand's lethal chondrodysplasia) 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]
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