Pycnodysostosis at otorhinolaryngology


Baglam T., BİNNETOĞLU A., Topuz M. F. , Ikizoglu N. B. , Ersu R., Turan S., ...More

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, vol.95, pp.91-96, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 95
  • Publication Date: 2017
  • Doi Number: 10.1016/j.ijporl.2017.02.009
  • Title of Journal : INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Page Numbers: pp.91-96

Abstract

Aim: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis.