Pediatric Radiology

, Volume 17, Issue 2, pp 119-123

First online:

Murk Jansen's metaphyseal chondrodysplasia with long-term followup

  • K. G. SilverthornAffiliated withDepartment of Radiology, University Hospital
  • , C. S. HoustonAffiliated withDepartment of Radiology, University Hospital
  • , B. P. DuncanAffiliated withDepartment of Pediatrics, Wascana Hospital

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The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from birth to the age of 15 years. Numerous invasive procedures were performed in pursuit of erroneous provisional diagnoses. Five of these patients presented in infancy with radiographic metaphyseal changes similar to rickets, but with preservation of the provisional zone of calcification. Following infancy, these patients reveal the more typical short-limbed dwarfism, with fusiform joints and bowed extremities.