Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 24, Pages 3186-3194Publisher
WILEY
DOI: 10.1002/ajmg.a.32576
Keywords
spondylometaphyseal dysplasia; bone dysplasia; retinal dystrophy; cone-rod dystrophy; SMD-CRD; neuraminidase deficiency
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Funding
- Calouste Gulbenkian Foundation
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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 conerod 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 a-neuraminidase activity levels in fibroblasts, but normal levels in leucocytes. The meaning of this finding remains as yet unknown. (C) 2008 Wiley-Liss, Inc.
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