Characterization of hearing loss in pediatric patients with osteogenesis imperfecta.

Introduction: Osteogenesis imperfecta (OI) is a common heritable disorder affecting type 1 collagen. The sequelae of OI vary, but hearing loss is a significant complication with 46-58 % of patients having some degree of hearing loss. Previous studies have suggested patients with OI may have conductive, sensorineural, or mixed hearing loss.

Surgical simulation of a catastrophic internal carotid artery injury: a laser-sintered model.

Background: The catastrophic and rare nature of an internal carotid artery (ICA) injury during endonasal surgery limits training opportunities. Cadaveric and animal simulation models have been proposed, but expense and complicated logistics have limited their adoption. Three-dimensional (3D) printed models are portable, modular, reusable, less costly, and proven to improve psychomotor skills required for managing different lesions.

Pycnodysostosis at otorhinolaryngology.

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.