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Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

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  • How to cite this article: Sousa SB, Russell-Eggitt I, Hall C, Hall BD Hennekam RCM. 2008. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet Part A 146A:3186–3194.

Abstract

There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity was named SMD-CRD. We further delineate this disorder by reporting on a 16-year-old boy and a pair of twins with this entity. Possible etiologies are discussed. The boy showed low α-neuraminidase activity levels in fibroblasts, but normal levels in leucocytes. The meaning of this finding remains as yet unknown. © 2008 Wiley-Liss, Inc.

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