Абстрактный

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.

El-Saadany H and Negm S

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.