Microdeletions of the long arm of chromosome 17 are being reported with increasing frequency. Deletions of 17q22q23.2 may represent a genetically recognizable phenotype although its spectrum of genomic abnormalities, clinical manifestations, and critical regions are not fully delineated. Isolated reports and small case series suggest that deletions of 17q22q23.2 result in haploinsufficiency of dosage sensitive genes NOG, TBX2, and TBX4, which may be responsible for many aspects of the phenotype. Shared clinical features in this group of patients include microcephaly, prenatal onset growth restriction, heart defects, tracheoesophageal fistula, and esophageal atresia (TEF/EA), skeletal anomalies, and moderate to severe global developmental delay. We describe a female patient who presented with severe congenital microcephaly, thyroglossal duct cyst, sensorineural hearing loss, mild tracheomalacia, abnormal auricles, pulmonary hypertension, developmental delay, and postnatal onset growth delay. She had no TEF/EA or heart defects. Using a high density oligonucleotide microarray, we identified a microdeletion at 17q22q23.2, resulting in the heterozygous loss of several genes, including TBX2 and TBX4 but not NOG. The breakpoints did not lie within known segmental duplications. This case helps to further delineate the critical region for TEF/EA, which is likely confined to the chromosomal region proximal to 17q23.1, and suggests that genes in 17q23.1q23.2 may be associated with thyroglossal duct cysts. The role of TBX2 and TBX4 in pulmonary hypertension warrants investigation.

Objectives/Hypothesis: To confirm and extend reported successful treatment of posterior glottic stenosis in pediatric patients using endoscopic laser division of the posterior cricoid plate with augmentation using costal cartilage.Study Design: A retrospective chart review and case series. Methods: Medical records were examined to determine the surgical indications, outcomes, and postoperative complications of this procedure.Results: Twelve patients underwent the procedure, six females and six males, with an average age of 7 years (range, 2-26 years). There were 8/12 (67%) patients successfully decannulated after being tracheostomy dependent. There were no consistent anatomic abnormalities or surgical findings predictive of failure to decannulate. Average hospital stay was 3.6 days (range, 2-9 days). There were no deaths or other major complications; one patient had extrusion.Conclusions: Endoscopic posterior cricoid grafting is a valuable surgical option for patients with posterior glottic stenosis. The procedure is associated with low morbidity and permits decannulation in the majority of patients.

Biofilms were present on tracheostomy tubes in greater than 90% of tracheostomy tubes collected as early as 7 days after insertion in both the inpatients and outpatients. Although a variety of bacteria were identified in the biofilm, they often appeared as discrete microcolonies that appeared to be monospecies biofilm on confocal microscopy. There was a statistically significant inverse correlation between the number of colony forming units found and frequency of inner cannula change.

No abstract

No abstract