A 5-year-old girl has had numerous childhood fractures. She is also found to have blue sclera, hearing abnormalities, and misshapen teeth. Which of the following is the most likely cause of these findings?

Question

Quizplus · Accepted Answer

The symptoms described are characteristic of Osteogenesis Imperfecta, which is caused by a defect in the synthesis of type I collagen.  Osteogenesis imperfecta type I is a genetic disorder characterized by synthesis of an abnormal type I collagen. Frequent childhood fractures, blue sclera, poor hearing, and misshapen teeth may all occur clinically because of the abnormal collagen synthesis.

A 5-Year-Old Girl Has Had Numerous Childhood Fractures