Format

Send to

Choose Destination

See 1 citation found using an alternative search:

Am J Med Genet A. 2004 Sep 1;129A(3):265-76.

Spondylometaphyseal dysplasia with cone-rod dystrophy.

Author information

1
Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.

Abstract

The co-occurrence of ophthalmologic abnormality and intrinsic skeletal dysplasia is uncommon. We describe eight instances of a unique form of spondylometaphyseal dysplasia (SMD) associated with cone-rod dystrophy (although documentation is insufficient to be certain of that diagnosis in some). This is a new, syndromic form of SMD for which there is evidence for autosomal recessive transmission. Recognition of the specific bony features described here should precipitate comprehensive ophthalmologic assessment, since vision impairment becomes significantly disabling with age.

PMID:
15326626
DOI:
10.1002/ajmg.a.30145
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center