Picture quiz: A child with multiple fractures
BMJ 2007; 335 doi: https://doi.org/10.1136/sbmj.0711417 (Published 01 November 2007) Cite this as: BMJ 2007;335:0711417- William Asher, final year medical student1,
- Mark J Curtis, consultant orthopaedic surgeon2
- 1University of Manchester
- 2Kingston Hospital, Surrey
A 3 year old boy presented with injuries after tripping and falling at home. His parents observed the incident and gave a history of a low impact fall. On examination he was distressed and clearly in pain, with bruising, tenderness, and deformity of both the left upper limb and right lower limb. He had a temperature of 37.8 degree C, his pulse rate was 110 beats/min, and his respiratory rate was 25 breaths/min. On auscultation, heart sounds were normal. Also, the patient had blue sclera and brown-grey discolouration of his teeth.
Plain radiographs are shown in figs 1 and 2. His parents reported that there is a family history of this condition, as shown by the pedigree in fig 3.
Questions
(1) Describe the abnormalities in figs 1 and 2.
(2) What are the differential diagnoses?
(3) Bearing in mind the likely diagnosis, what type of inheritance is shown in fig 3?
(4) If the boy's parents were having another child, what would be the chance of the child inheriting the condition?
(5) What abnormalities would blood tests show?
Answers
(1) Fig 1 shows fracture of the midshaft of the humerus, with about 60 degree …
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