| Literature DB >> 28109507 |
Qasim Husain1, Jungsuk Cho2, Jay Neugarten2, Vikash K Modi3.
Abstract
Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and hearing loss. Disruption of the normal collagen pathway can lead to many changes given its critical role in the body, and can cause complications with respect to wound healing. We present a case in which a patient with Kniest dysplasia successfully underwent multiple procedures in the head and neck region including cochlear implantation, mandibular distraction, palatoplasty, and laryngotracheal reconstruction. All procedures did not have any associated complications with respect to wound healing, indicating that surgery in this population can take place as indicated and surgery should not be contraindicated or delayed.Entities:
Keywords: COL2A1 mutation; Cleft palate; Cochlear implantation; Kniest dysplasia; Laryngotracheal reconstruction; Mandibular distraction; Micrognathia; Tracheotomy; Type II collagen; Wound healing
Mesh:
Year: 2016 PMID: 28109507 DOI: 10.1016/j.ijporl.2016.12.025
Source DB: PubMed Journal: Int J Pediatr Otorhinolaryngol ISSN: 0165-5876 Impact factor: 1.675