Spondylo-megaepiphyseal-metaphyseal dysplasia

Definition:

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait.

References:

[1]. Jan Hellemans, et al. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Am J Hum Genet. 2009 Dec;85(6):916-22. [Content Brief]

[2]. Prachi Pragya Agarwal, et al. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. Pediatr Radiol. 2003 Dec;33(12):893-6. [Content Brief]

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