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blue sclera

Etiology: - osteogenesis imperfecta (may be present at birth) [1,2] - Marfan syndrome [2]

General

sign/symptom

References

  1. Mannstadt M et al Case records of the Massachusetts General Hospital. Case 24-2014 - A 27-Year-Old Man with Severe Osteoporosis and Multiple Bone Fractures. N Engl J Med 2014; 371:465-472July 31, 2014 PMID: 25075839 http://www.nejm.org/doi/full/10.1056/NEJMcpc1404139
  2. Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022