Atypical expanded-spectrum hemifacial microsomia: a case report.

Objective : To present the case report of a patient with expanded hemifacial microsomia (HFM) that illustrates the complex interactions of these embryogenic factors and to review current theories and mechanism regarding the etiopathogenesis of HFM. Design and Method : We present the case of an African American girl who was born at full term by cesarean section and transferred to our institution for systemic malformations. Her craniofacial findings include holoprosencephaly, cleft lip and palate, low set and posteriorly rotated ears, flat midfacial features, micrognathia, left HFM with grade 1 microtia, hypoplastic mandible, and a small preauricular pharyngeal arch remnant. Systemic anomalies included ectopic kidney, atrial-septal defect, bilateral hip dysplasia, bilateral humeroradial fusion, bilateral club feet, and bilateral low-set thumbs with the right side also being triphalangeal. Genetic evaluation did not identify a molecular diagnosis or other known syndrome. Conclusions : Although vasculogenic disruption of the stapedial artery during early fetal gestation has been implicated in the etiology of HFM, the grouping and bilateral findings seen in our patient argue against this relatively simple and localized phenomenon. Instead, such diverse and widespread anomalies in the setting of expanded spectrum HFM seem to support the theory of a disorder in blastogenesis as the cause of HFM.

Incidental findings on preoperative computed tomography for nonsyndromic single suture craniosynostosis.

Although the diagnosis of nonsyndromic single suture craniosynostosis (NSSC) can usually be made by clinical examination, computed tomography (CT) is still commonly used in preoperative evaluation. This practice has been questioned in light of recent studies that document a small, but measurable, increased risk of malignancy from CT-associated radiation. The purpose of this study was to examine whether preoperative CT for patients with NSSC provided clinically important information beyond confirmation of craniosynostosis. We performed a retrospective analysis of all patients with NSSC undergoing cranial vault remodeling at our center from March 1999 to March 2011. Only patients with complete preoperative CT scans available for review were included. Staff pediatric neurosurgeons were blinded to patient diagnosis and official radiology report, analyzed the CT images, and documented the site of synostosis and any other findings. Of the 231 patients, 80 met the inclusion criteria. Sites of synostosis included sagittal (51 patients), coronal (17 patients), metopic (11 patients), and frontosphenoidal (1 patient). Clinical diagnosis correlated with radiographic site of fusion in all patients except the patient with frontosphenoidal synostosis. Incidental findings were documented in more than 50% of the patients including prominent extra-axial cerebrospinal fluid (n = 36, 45%), ventriculomegaly (n = 5, 6.25%), choroid fissure cyst (n = 2), cavum septum pellucidum (n = 2), Chiari malformation (n = 1), and prominent perivascular space (clinically nonsignificant finding, n = 1). Incidental findings required additional follow-up or management in 5 patients (6.25%). Our findings support the use of preoperative imaging in this population to identify intracranial anomalies that cannot be discerned by clinical examination. Whereas many findings were not clinically important, some required additional attention.

Radiation following surgery for oral cancer: impact on local control.

OBJECTIVES: The use of postoperative radiation therapy (RT) is commonly used in the treatment of patients with high-risk squamous cell carcinoma of the head and neck. However, few data exist that quantitate the incremental benefit of RT when administered following surgery. The retrospective study was designed to measure the incremental benefit of adjuvant RT after surgery on control of the primary lesion when compared with patients undergoing surgical therapy alone for squamous cell carcinoma of the oral cavity. STUDY DESIGN: Retrospective chart. METHODS: Previously untreated patients with squamous cell carcinoma of the floor of mouth or oral tongue who were treated between 1974 and 1998 were eligible for study. A minimum follow-up of 2 years was required. Tumor site, stage, and RT data were correlated with local control. RESULTS: Patients with missing or incomplete data and those lost to follow-up or dead as a result of intercurrent disease with follow-up of less than 2 years were censored. A group of 211 patients who could be evaluated was available for the study. Radiation therapy was administered postoperatively to 58 patients, and 153 patients were treated with surgery alone. In the group treated with combined therapy, the average irradiation dose was 5850 cGy; this group included 35 patients who received more than and 16 who received less than 5700 cGy. CONCLUSIONS: The incremental benefit in terms of control of tumor at the primary site for patients receiving postoperative RT was between 0% and 7%. Surgery alone controlled 80% to 85% of primary tumors. The dose of postoperative RT did not correlate with local control.