Unraveling the Puzzle: Pyknodysostosis A Rare Case Report

Abstract

Pyknodysostosis is a rare autosomal recessive disorder, first described in 1962 by Maroteaux and Lamy. The disorder characterized by the postnatal 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. Here, I present a case having classical features of pyknodysostosis.