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

Downloads

Download data is not yet available.
Abstract
811
PDF
580

Downloads

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

Vol. 11 No. 2 (2010)

Section

Case Reports

License

Authors who publish with this journal agree to the following terms:

    1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

    1. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

  1. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).