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  • Title: Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
    Author: Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M.
    Journal: Am J Med Genet A; 2010 Jun; 152A(6):1550-4. PubMed ID: 20503334.
    Abstract:
    This report describes two unrelated boys presenting with short stature, femoral metaphyseal abnormalities, platyspondyly, and retinitis pigmentosa. Patients share similar findings with cases described by Ehara et al. [Ehara et al. (1997); Eur J Pediatr 156:627-630] described as axial spondylometaphyseal dysplasia. The presence of consanguinity in one of our patients further supports an autosomal recessive mode of inheritance of what, we believe, constitutes a separate and distinct entity.
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