Pyknodysostosis with Hearing Impairment

Abstract

Pyknodysostosis is a rare seclerosing bone disease that has autosomal recessive trait. It is characterized by smallstature, diffuse osteosclerosis with tendency to transverse fractures, acro-osteolysis of fingers, with flattened andgrooved nails. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absenceof frontal sinuses and obtuse mandibular gonial angle with relative mandibular prognathism. We report a 9-yearoldgirl having features of pyknodysostosis with progressive hearing impairment, in the form of otosclerosis.Keywords: Craniofacial abnormalities; Hearing impairment; Otosclerosis; Pyknodysostosis; Seclerosing bone diseases.DOI: 10.3329/jom.v11i2.5475J MEDICINE 2010; 11 : 202-204

Case Report — Pyknodysostosis

“…Our case has "Sandal Gap" deformity of 1 & 2 toes [6]. Current case did not show hearing loss or orbits vitreous hyperplasia as seen in only few cases [6,7].…”