Blomstrand syndrome

Definition:

Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation.

References:

[1]. Sabine Duchatelet, et al. Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet. 2005 Jan 1;14(1):1-5. [Content Brief]

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