Keutel syndrome

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet 21 142-144... 

In humans, mutations in the gene encoding for MGP cause the Keutel syndrome, a rare disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis, and extensive arterial calcification. - Interestingly, unlike mouse models of MGP knockout, patients with Keutel syndrome survive into adulthood, signifying the role of other factors in humans that inhibit vascular calcification. 

Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family Review of the clinical and molecular characteristics of Keutel syndrome, Am J Med Genet A 2005 135 36 0. 

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