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.
Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy†
Article first published online: 14 NOV 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 24, pages 3186–3194, 15 December 2008
How to Cite
Sousa, S. B., Russell-Eggitt, I., Hall, C., Hall, B. D. and Hennekam, R. C.M. (2008), Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. Am. J. Med. Genet., 146A: 3186–3194. doi: 10.1002/ajmg.a.32576
- Issue published online: 21 NOV 2008
- Article first published online: 14 NOV 2008
- Manuscript Accepted: 4 SEP 2008
- Manuscript Received: 7 FEB 2008
- Calouste Gulbenkian Foundation
- spondylometaphyseal dysplasia;
- bone dysplasia;
- retinal dystrophy;
- cone-rod dystrophy;
- neuraminidase deficiency
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.