Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Acta Paediatr Taiwan. 2002 Mar-Apr;43(2):106-8.

Spondyloepiphyseal dysplasia tarda: report of one case.

Author information

  • 1Department of Pediatrics, Taichung Veterans General Hospital, Taiwan.

Abstract

We report the clinical assessment and mutational analysis of one boy with spondyloepiphyseal dysplasia tarda (SEDT). His short stature manifested between age 5 and 10. As his growth slowed, his height fell from the mean for his age at 5 to the 2nd percentile at age 10.5. His bone age was retarded at 8 years, thus his predicted adult height was 164.9 cm, not far from his target height of 170cm. However, upon physical examination, he presented markedly short trunk. We suspected SEDT and X-ray finding of his spine supported this diagnosis. We performed DNA analysis on the SEDL gene and detected a 5-bp deletion in exon 5 which has been previously reported by Mumm et al. and Gedeon et al. in cases of SEDT.

PMID:
12041616
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk