Surgery of the head and neck in patient with Kniest dysplasia: Is wound healing an issue?

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.

Occipitocervical fusion in skeletal dysplasia: a new surgical technique.

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: This study describes clinical and radiological results of a new cable technique for occipitocervical fusion (OCF) in children with skeletal dysplasia (SD). SUMMARY OF BACKGROUND DATA: Anatomical variability and poor bone quality make upper cervical surgery technically challenging in patients with SD. We present a new cable technique for OCF in children with SD when the posterior elements are not of a size or quality for other types of instrumentation. METHODS: Retrospective review of 24 patients with SD (8 boys, 16 girls) who underwent OCF between 2001 and 2011. In this technique, cables provide compression across a bone graft that is prevented from entering the canal and the graft resists excessive lordosis. Demographic and radiographical data are presented. All patients were followed for initial outcomes of surgery, and 20 patients (83%) were followed for 2 years or more for mid- and long-term outcomes. RESULTS: Mean age at surgery was 6.5 years and mean follow-up was 4.1 ± 2.4 years. This technique was used as a primary procedure in 20 and a revision procedure in 4 patients. Diagnoses included Morquio syndrome (6), spondyloepiphyseal dysplasia (9), spondyloepimetaphyseal dysplasia (5), metatropic dysplasia (3), and Kniest syndrome (1). Ten patients had upper cervical instability and features of cervical myelopathy, and the remaining 14 patients had instability and signal changes on magnetic resonance image. Fusion extended from occiput to C2 in 71% patients, and upper cervical decompression was needed in 92% patients. Postoperatively, all patients were immobilized in a halo vest for mean duration of 12 weeks. Fusion was achieved in all patients. Complications included halo pin-tract infections (7), junctional instability (2), and extension of fusion (4). CONCLUSION: This new cable technique is a good alternative for OCF in patients with SD who have altered anatomy at the craniocervical junction not amenable to rigid internal fixation. LEVEL OF EVIDENCE: 4.

Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.

OBJECTIVE: Disruption to endochondral ossification leads to delayed and irregular bone formation and can result in a heterogeneous group of genetic disorders known as osteochondrodysplasias. These genetic disorders arise through disturbances in the complex processes of skeletal growth causing development of unsightly skeletal deformities. METHODS : Each syndrome was diagnosed on the basis of detailed clinical and radiographic assessment. Lower limb deformities were the prime presenting feature. RESULTS: Here are presented three patients with diverse genetic syndromes, namely Wolcott-Rallison syndrome (WRS), Kniest dysplasia (KD) and Desbuquois dysplasia (DS). Genetic testing was performed in the patients with WRS and DS. The diagnosis of KD was made purely on a clinical and radiographic basis. Variable orthopaedic interventions to realign these patients' lower limbs were implemented with the aim of improving their balance and gait. CONCLUSIONS: The aim of this paper is twofold. The first part is to outline the importance of diagnosing the causes of various skeletal abnormalities in patients with osteochondrodysplasias by phenotypic and genotypic characterization. The second part is to demonstrate our techniques for surgical corrections in patients with joint laxity and malalignment and show how far techniques for growth modulation, re-alignment and ligament reconstruction have advanced.

[Use of Parker Flex-Tip tracheal tube in a patient with Kniest dysplasia].

A 37-year-old man with Kniest dysplasia and thoracic myelopathy was scheduled for T3-12 laminectomy. Kniest dysplasia is a severe chondrodysplasia characterized by short trunk and limbs. Awake fiberoptic intubation was attempted to prevent airway obstruction because we had predicted his difficult airway. During fiberoptic tracheal intubation, we easily succeeded in the insertion of the fiberscope itself into the trachea, but were not able to insert the tip of a reinforced tube into the trachea, because the tip of the reinforced tube impinged on laryngeal structures. We succeeded in placing the Parker Flex-Tip tracheal tube into the trachea. We considered that the Parker Flex-Tip tube, having a tip that reduces the gap between the fiberscope and the inside of the tube, resulted in success of the passage of the tube into the trachea during fiberoptic intubation.

Tracheostomy in neonates and small infants: problems and pitfalls.

Newborn babies and small infants who require tracheostomy often follow a complicated clinical course characterized by frequent sepsis, altered ventilatory dynamics, and eventual respiratory decompensation. Many of these problems are avoidable with use of a properly placed endotracheal tube during tracheostomy, a special surgical technique in the performance of the tracheostomy, and silicone rubber tracheostomy tubes. Seventy-four babies underwent tracheostomy at our Children's Center between 1963 and 1976. A review of this experience demonstrates the benefits of unhurried, standardized technique and management. In the 48 newborns requiring tracheostomy, no technical difficulties were encountered, and no complications occurred as a result of the tracheostomy. In the group of 26 older infants, however, there were significant complications, especially in children undergoing emergency tracheostomy without a previously placed endotracheal tube. Although there were no deaths directly related to tracheostomy, one case of pirulent tracheitis and one case of interstitial thyroid hemorrhage were noted at autopsy. Among survivors, there was one case of bilateral pneumothoraces, two cases of severe subcutaneous emphysema, and three cases of postoperative bleeding. Review of the long-term complications in this series demonstrates the benefits of the silicone rubber polymer tube. Since its routine use, problems with stomal granulation have almost disappeared. There have been no problems in extubating the very young babies. Our operative technique and intensive care management of these babies will be emphasized as the keys to the improved outcome.