Format

Send to

Choose Destination
Eur J Pediatr. 1999 Oct;158(10):809-14.

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.

Author information

1
Department of Radiology, Centrum Zdrowia Matki Polki, Lodz, Poland.

Abstract

A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal.

CONCLUSION:

These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.

PMID:
10486082
DOI:
10.1007/s004310051211
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center