Format

Send to

Choose Destination
Am J Med Genet A. 2003 Sep 15;122A(1):84-8.

Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?

Author information

1
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland. willie.reardon@olhsc.ie

Abstract

We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait.

PMID:
12949979
DOI:
10.1002/ajmg.a.20278
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center