Pycnodysostosis at otorhinolaryngology

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

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 95
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.ijporl.2017.02.009
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.91-96
  • Anahtar Kelimeler: Pycnodysostosis, Maxillofacial abnormalities, Adenotonsillectomy, Sleep apnea, MAXILLARY DISTRACTION, PYKNODYSOSTOSIS, PATIENT
  • Marmara Üniversitesi Adresli: Evet

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.