A rare case of pycnodysostosis-A disease with generalised osteosclerosis

Dr. Harshadkumar A. Patel; Dr. Naitik M. Chhatrala; Dr. Keyur J. Patel; Dr. Punit J. Tank; Dr. Subham A. Jain; Dr. Nirav B. Rathi

Volume : IV, Issue : VIII, August - 2015

A rare case of pycnodysostosis-A disease with generalised osteosclerosis

Dr. Harshadkumar A. Patel, Dr. Naitik M. Chhatrala, Dr. Keyur J. Patel, Dr. Punit J. Tank, Dr. Subham A. Jain, Dr. Nirav B. Rathi

Abstract :

A 60 years old male came to OPD with left hip pain and swelling after trivial trauma with past history of multiple long bone fractures.On clinical and radiological investigations patient has been diagnosed as rare disorder named Pycnodysostosis, manifests as generalised osteosclerosis of the skeleton as aresult of decreased bone turnover with autosomal recessive mode ofInheritance, first described by Maroteaux and Lamy in 1962. It is characterised by short stature, stubby extremities, facial dysmorphism, frequent pathological fractures of long bones, open anterior fontanelles, blue sclera and absence of mental retardation, proportionate dwarfism, well developed secondary sex characteristics, peculiar facies, prominent forehead, beaked nose , receeding jaw, and most importantly multiple spontaneous fractures associated with trivial trauma. This article reviews the clinical and radiographic characteristics of pycnodysostosis.