Faculty Bibliography

Cleft lip and palate are types of craniofacial birth defects that affect thousands of children worldwide each year. These conditions are sensitive topics of conversations, often affected by the stigma of physical birth deformities and cultural myths. This article reviews the pathophysiology of cleft lip and palate, and describes the traditional management of patients with oral-facial clefts, including the extensive supportive care and an interprofessional team or cleft team approach that extends beyond the surgical correction.

Stahl's ear deformity presents with an abnormal third crus of the antihelix and varying degrees of severity. This paper aims to describe a novel technique for reconstruction of Stahl's ear involving a double-reverse wedge excision of the third crus cartilage and skin, as well as use of Mustardé sutures to recreate the superior crus and Furnas sutures to complete the auricular setback. This novel technique for correction of Stahl's ear deformity produces a more stable aesthetic result versus classic otoplasty with desired auricular setback, minimal reduction in the size of the ear, and limited scarring on the anterior auricular surface. Reconstruction of Stahl's ear deformity can be accomplished using this double-reverse wedge excision technique of the third crus cartilage and skin with Mustardé and Furnas sutures to recreate the superior crus and complete auricular setback, effectively restoring anatomic harmony to the ear.

BACKGROUND:This study was designed to examine long-term skull growth following single sutural synostosis corrections and to evaluate surgical outcomes. METHODS:A retrospective outcome assessment of all children treated with a single-stage, open-remodeling procedure for sagittal, metopic, unilateral coronal, and unilateral lambdoid synostosis was performed. Long-term growth was assessed from serial anthropometric measurements taken up to 11 years postoperatively (mean, 4 years). RESULTS:Of 296 consecutive patients, complete records were available for 248 operative procedures. The mean surgical age was 12.3 months (range, 2.5 months to 8 years), with 36 patients older than 12 months. Transfusion rates decreased from 81 to 19 percent following the institution of blood conservation strategies. The average hospitalization was 2.5 days. There was one nonsurgically treated infection (0.4 percent), and no major complications or deaths. Five patients underwent secondary remodeling procedures (2 percent). Serial anthropometric measurements, obtained in 75 patients, showed normalization of cranial indices 6 weeks postoperatively, but subsequent measurements revealed statistically significant diminished growth. Earlier surgical treatment of metopic synostosis (4 months) was associated with significantly more growth inhibition than seen in those treated at an older age (12 months), with the other synostoses showing similar tendencies. CONCLUSIONS:Treatment of single sutural synostosis was extremely safe with very low reoperative rates, but subsequent calvarial growth was abnormal, with a tendency toward recapitulation of the primary deformity. Growth was less diminished in procedures performed in older infants. Surgeons treating single sutural craniosynostosis should consider expanding treatment goals beyond normalization to an overcorrection of the abnormal skull shape.

OBJECTIVE:22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis. DESIGN/METHODS:This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group. SETTING/METHODS:This study was conducted at The Children's Hospital of Philadelphia, a pediatric tertiary care center. PATIENTS, PARTICIPANTS/METHODS:The study group consisted of 5 children between the ages of 2.9 and 7.9 years, with 22q11.2 deletion syndrome confirmed by fluorescence in situ hybridization analysis. All had VPD confirmed by nasendoscopy or videofluoroscopy. The control population consisted of 123 unaffected patients who underwent MRI for reasons other than VP assessment. INTERVENTIONS/METHODS:Axial and sagittal T1- and T2-weighted magnetic resonance images with 3-mm slice thickness were obtained from the orbit to the larynx in all patients by using a 1.5T Siemens Visions system. OUTCOME MEASURES/METHODS:Linear, angular, and volumetric measurements of VP structures were obtained from the magnetic resonance images with VIDA image-processing software. RESULTS:The study group demonstrated greater anterior and posterior cranial base and atlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes. CONCLUSION/CONCLUSIONS:Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD.

These experiments evaluate the efficacy of a demineralized bone matrix putty engineered as a hybrid construct for sustained, site-directed gene transfer using an adenoviral vector. In vitro experiments were performed to evaluate the optimal dosing for gene transfer to fetal calvarial osteoblasts and dural cells and for the sustainability of gene transfer from the hybrid constructs. In the dosing experiments, hybrid constructs were created by combining 0.5 mL of demineralized bone matrix putty (DBX; SYNTHES Maxillofacial, Monument, CO) with 1 x 10(8), 1 x 10(7), or 1 x 10(6) particle-forming units (PFU) of an adenoviral vector carrying the gene encoding green fluorescent protein (AdGFP). These constructs were then placed in direct contact, or in transwell coculture, with fetal murine calvarial osteoblasts or dural cells at a multiplicity of infection (MOI = viral particle/cell ratio) of 1000, 100, and 10. The sustainability of gene transfer was tested through transfer of the hybrid construct to wells containing untransfected cells every 24 hours for 30 days. In both experiments, gene transfer was determined through the visualization of GFP using fluorescence light microscopy 24 hours after the onset of transfection. Optimal dosing for gene transfer occurred at an MOI of 10 for calvarial osteoblasts and 100 for dural cells. At greater concentrations, toxicity was observed in the majority of samples. Gene transfer to fetal dural cells and calvarial osteoblasts was sustained throughout the 30-day period. These experiments suggest that adenoviral vectors could be successfully incorporated within demineralized bone matrix to provide effective, sustained, site-directed gene transfer.