Total: 1 |
|
PMID (PMCID) | ||
---|---|---|
22739343 |
FEMALE | |
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. | ||
Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ. Eur J Hum Genet. 2013;21(2):233-6. |
||
We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable.We further propose that the diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder. |