Biology & Medicine Case Reports

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Case Report - Biology & Medicine Case Reports (2018) Volume 2, Issue 2

Combination of Osteogenesis imperfecta, Ehlers Danlos syndrome, TRAP syndrome, and Stickler syndrome as multiple inherited connective tissue disorders in a 28-year-old Egyptian woman.

Collagen related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis assembly posttranslational modification a secretion or other processes involved in normal collagen production. One thousand mutations have been identified in twelve out of more than twenty types of collagen. These mutations can lead to various diseases at the tissue level. This report describes an Egyptian female presented by multiple different polysystematic disorders proved to be manifestations of multiple rare inherited connective tissue disorders in the same patient to be the first woman worldwide to comprise all these rare syndromes up to our review.

Author(s): El-Saadany H and Negm S

Abstract Full Text PDF

Get the App