Abstract

Tan Chen Liang* and Surinder Singh

ABSTRACT

Pycnodysostosis is a rare autosomal recessive disorder caused by a mutation in cathepsin K (CTCK) found in osteoclasts. Individuals with pycnodysostosis have characteristic clinical features such as short stature, stubby fingers and narrow palate. Radiologically, the bones appear to have a sclerotic cortex with relative sparing of the medullary canal, making surgical option for internal fixation of fracture rather difficult. This article reports a closed transverse left subtrochanteric fracture in a patient with pycnodysostosis that was managed conservatively.