Q:

A child presents with blue marks on the sclera, short stature and heart murmur. What is the diagnosis?

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A child presents with blue marks on the sclera, short stature and heart murmur. What is the diagnosis?


  1. Osteogenesis imperfect
  2. Hypopituitarism
  3. VSD
  4. Achondrogenesis
  5. Dwarfism

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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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