A child presents with blue marks on the sclera, short stature and heart murmur. What is the diagnosis?
belongs to book: 1700 MCQ REVISED VERSION TOPIC WISE|DR. KHALID SAIFULLAH|4th EDITION| Chapter number:14| Question number:8
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The key is A. Osteogenesis imperfecta. [Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. OI may have joint hyperlaxity; muscle weakness; chronic, unremitting bone pain; and skull deformities (eg, posterior flattening) due to bone fragility during infancy. Limb shortening and progressive deformities can occur, and patients have a triangular face with frontal and temporal bossing; malocclusion is common. The sclera have variable hues commonly blue].
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