Craniometaphyseal dysplasia

Definition:

Craniometaphyseal dysplasia, caused by mutations in ANKH, is a very rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones.

References:

[1]. Allison Zajac, et al. Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia. Am J Med Genet A. 2010 Mar;152A(3):770-6. [Content Brief]

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