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Keywords:

  • spondylometaphyseal dysplasia;
  • bone dysplasia;
  • retinal dystrophy;
  • cone-rod dystrophy;
  • SMD-CRD;
  • neuraminidase deficiency

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.