Abstract
Aims
To describe four South African patients (including a sibling pair) with pycnodysostosis and to highlight the importance of a comprehensive assessment of the patient, and not just the fracture. To emphasise the significance of the input of a multidisciplinary team which should include a medical geneticist, in order to provide optimal care for patients and their families.
Methods
A comprehensive evaluation of the clinical and radiological features of these four patients was undertaken and the orthopaedic complications documented, with the times from presentation to definitive diagnosis.
Results
All four patients presented to orthopaedic trauma departments several times for management of long bone fractures before a diagnosis of pycnodysostosis was suspected. Indeed the siblings were misdiagnosed as a different condition altogether. Delays in diagnosis meant that associated complications were not recognised timeously and patients were not referred to the relevant experts for specialist care. The younger of the siblings described died due to severe upper airway obstruction- a recognised, treatable and potentially preventable complication of the condition.
Conclusion
Although patients present with fractures, it is imperative to look beyond the fracture. Obtaining a comprehensive medical and family history, along with a complete physical and radiological examination of any patient presenting with recurrent fractures or fractures sustained after minor injury, is important. An evaluation by a medical geneticist is invaluable in making the diagnosis and providing genetic counselling to the families.
NO DISCLOSURES
