Parastremmatic dwarfism

Definition:

Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term "parastremmatic" is used from the Greek parastremma (distorted limb).

References:

[1]. Gen Nishimura, et al. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A. 2010 Jun;152A(6):1443-9. [Content Brief]

[2]. L O Langer, et al. An unusual bone dysplasia: parastremmatic dwarfism. Am J Roentgenol Radium Ther Nucl Med. 1970 Nov;110(3):550-60. [Content Brief]

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