Pyknodysostosis with hearing impairment: A case report

Abstract

Pyknodysostosis is a rare seclerosing bone disease that has autosomal recessive trait. It is characterized by 
small stature, diffuse osteosclerosis with tendency to transverse fractures, acro-osteolysis of fingers, with 
flattened and grooved nails. Other features include persistence of fontanelles, delayed closure of sutures, 
wormian bones, absence of frontal sinuses and obtuse mandibular gonial angle with relative mandibular 
prognathism. We report a 9-year-old girl having features of pyknodysostosis with progressive hearing 
impairment, in the form of otosclerosis.