Pycnodysostosis at otorhinolaryngology


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

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.95, ss.91-96, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 95
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ijporl.2017.02.009
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Sayfa Sayısı: ss.91-96

Özet

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.