Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized
hyperostosis along with
acro-osteolysis with
sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. 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 case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger
tips, and
nail abnormalities. Radiographs showed multiple impacted permanent and
supernumerary teeth, hypoplastic paranasal sinuses with
acro-osteolysis of terminal phalanges, and open fontanelles, and
sutures along with wormian bones in the lambdoidal region.