4th March 2024

A 23-year-old male was known to have recurrent fractures as a child

A 23-year-old male was known to have recurrent fractures as a child, but his parents declined any investigations as a child or teenager. He recalls that most of these fractures were due to minor falls and trauma. Examination reveals blue sclera and joint hypermobility across his fingers and thumbs. He also wears hearing aids bilaterally. His height is slightly lower than average. Kyphoscoliosis of his thoracic spine was also noted. Blood tests revealed normal calcium, phosphate and ALP with normal PTH levels, but the DEXA scan revealed widespread osteoporosis. Vitamin D levels were normal.

Which of the following conditions is the likely underlying diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.