Publication:

A rare case of Ehler Danlos syndrome - Progeroid type: a case report

Ehler Danlos syndrome (EDS), is a group of genetically heterogenous connective tissue disorder. A very rare type of this syndrome is the Progeroid type which is included in the NIH group of rare diseases list. The prevalence is < 1 / 1000000. Along with the usual clinical features, patients with Ehler Danlos syndrome-Progeroid type have old age appearance. Here we report one such rare case of this syndrome diagnosed in a 8 yr old child with characteristic clinical features and supportive genetic confirmation.