Case history
Case history #1
A 20-year-old man presents with a history of 10 fractures during his lifetime. The fractures sustained include those of the right humerus at age 3 years, left radius and ulna at age 6 years, and small bones of the hands at age 18 years. The long bone fractures had been sustained after falls. There is no history of hearing loss, dental abnormalities, or cardiopulmonary disease. The family history is significant for the father, a paternal uncle, and paternal aunt with a history of multiple fractures and hearing loss. Physical examination is remarkable for blue-grey sclera, and mild bowing of the left forearm.
Case history #2
A 3-year-old girl is brought to the emergency department after sustaining a fall in the playground. She is in acute pain, cannot move her left lower limb, and she is unable to walk. Antenatal history is remarkable for a history of intrauterine fractures detected on prenatal ultrasound. Medical history is remarkable for multiple fractures including bilateral femoral, tibial, ulnar, and humeral fractures. Physical examination reveals a child in acute distress and pain. Height Z-score is -3.2. Weight Z-score is -3.6. The child has a triangular face, frontal bossing, beaked nose, opalescent bluish-grey teeth, and bowing of long bones. The family history is unremarkable for any skeletal disorder.
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