Pycnodysostosis at otorhinolaryngology

Baglam, Tekin; BİNNETOĞLU, ADEM; Topuz, MUHAMMET; Ikizoglu, Nilay; Ersu, Refika; Turan, Serap; Sari, Murat

doi:10.1016/j.ijporl.2017.02.009

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 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 95
Publication Date: 2017
Doi Number: 10.1016/j.ijporl.2017.02.009
Journal Name: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.91-96
Kütahya Health Sciences University Affiliated: No

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.