Sagittal craniosynostosis is the most common form of craniosynostosis, affecting approximately one of 5,000 newborns. We conducted the first genome-wide association study (GWAS) for non-syndromic sagittal craniosynostosis (sNSC) using 130 non-Hispanic white (NHW) case-parent trios. Robust associations were observed in a 120 kb region downstream of BMP2, flanked by rs1884302 (P = 1.13 × 10−14; odds ratio [OR] = 4.58) and rs6140226 (P = 3.40 × 10−11; OR = 0.24) and within a 167 kb region of BBS9 between rs10262453 (P = 1.61 × 10−10; OR=0.19) and rs17724206 (P = 1.50 × 10−8; OR = 0.22). We replicated the associations to both loci [rs1884302 (P = 4.39 × 10−31); rs10262453 (P = 3.50 × 10−14)] in an independent NHW population of 172 unrelated sNSC probands and 548 controls. Both BMP2 and BBS9 are genes with a role in skeletal development warranting functional studies to further understand the etiology of sNSC.

Objective The objective of this study was to determine if there are differences in decannulation rates and duration of cannulation between pediatric patients undergoing tracheotomy for different indications. Study Design Retrospective chart review. Methods Medical records for pediatric patients (age 0–18 years) undergoing tracheotomy between January 1, 2003 and May 31, 2012 were retrospectively reviewed. Patients were assigned an indication for tracheotomy from five categories: neurological, cardiopulmonary, upper airway obstruction, craniofacial anomalies, and maxillofacial/laryngotracheal trauma. Results Initial chart review identified 124 patients, 113 for whom complete data was available. Of these patients, the indications for tracheotomy were cardiopulmonary disease in 24 (21.2%), craniofacial anomalies in 12 (10.6%), neurological impairment in 44 (38.9%), traumatic injury in 11 (9.7%), and upper airway obstruction in 22 (19.5%). The time to decannulation was shorter for trauma patients compared to cardiopulmonary (P = 0.044) and neurological patients (P = 0.001). A total of 32 (31.9%) patients were decannulated during the study period, with a higher rate in trauma patients (72.7%) and a lower rate in those with upper airway obstruction (36.4%) than would be expected under homogeneity. Of the 32 patients who were decannulated, 11 (30.6%) were decannulated during the same hospitalization in which the tracheotomy was performed. Conclusion This study demonstrates a difference in overall decannulation rates and a shorter time to decannulation in children undergoing tracheotomy for maxillofacial and laryngotracheal trauma compared to cardiopulmonary and neurological indications.

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This initial study supports the validity of the numeric 0-10 anxiety self-report scale to assess state anxiety in children as young as 7 yr.