Pyknodysostosis with Hearing Impairment

Authors

  • Mohd Ashraf Registrar, SKIMS Medical College
  • Arshad Farooq Associate Professor, SKIMS Medical College
  • Tanveer I Dar Registrar, SKIMS Soura Srinagar
  • Khursheed A Wani Consultant, GMC Srinagar

DOI:

https://doi.org/10.3329/jom.v11i2.5475

Keywords:

Craniofacial abnormalities, Hearing impairment, Otosclerosis, Pyknodysostosis, Seclerosing bone diseases

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-yearold
girl 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.v11i2.5475

J MEDICINE 2010; 11 : 202-204

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How to Cite

Ashraf, M., Farooq, A., Dar, T. I., & Wani, K. A. (2010). Pyknodysostosis with Hearing Impairment. Journal of Medicine, 11(2), 201–204. https://doi.org/10.3329/jom.v11i2.5475

Issue

Section

Case Reports