Optimizing Reconstruction in Craniosynostosis: Review of Nonsyndromic Patients Treated With a Novel Technique.

PURPOSE: Open cranial vault remodeling (CVR) with autologous split calvarial bone grafts redistributes and recontours an abnormal calvarium to create an expanded cranial vault in patients with craniosynostosis. We report a 12-year retrospective review of 162 nonsyndromic patients who underwent operative repair using our previously-described technique which portends excellent surgical outcomes and can be applied to patients of any age group and with any variety of suture fusion. METHODS: Data was gathered on patients who underwent CVR from 2005 to 2016. Surgical records for each patient were analyzed and included operative time, estimated blood loss, and intraoperative transfusion volumes. Intraoperative and postoperative complications, the need for revision surgery, postoperative length of stay, and follow-up records were also reviewed. Syndromic patients were excluded, as well as patients with incomplete data sets. Patients who underwent either anterior or posterior vault remodeling were compared. RESULTS: A total of 162 patients were included in this case series. Patients undergoing anterior CVR were significantly older than those undergoing posterior CVR (13.3 versus 11.0 months, P < 0.015) and also had significantly greater intraoperative red blood transfusion volumes (20.3 versus 15.3cc/kg, P < 0.0207) and longer operative time than posterior CVR patients (274.9 versus 216.7 minutes, P < 0.0001). No patients required reoperation for resorption or recurrence or persistent contour irregularities. There were no visual or neurological complications. Calvarial bone was successfully split in 100% of cases. CONCLUSIONS: This surgical approach to CVR results in good surgical outcomes with a low recurrence rate, while also maximizing operative efficiency, and minimizing total blood loss and transfusion volume. This technique can be applied to any affected suture in a patient with craniosynostosis and in patients of any age group.

Craniofacial Cleft: A Case of Tessier 10 Cleft With a Novel Method to Repair Large Bilateral Colobomas.

OBJECTIVE: To describe a reliable method utilizing large, rotation flaps to reconstruct a number 10 Tessier cleft. DESIGN: This is a descriptive clinical case report. SETTING: Pediatric teaching hospital affiliated with a university. PATIENTS, PARTICIPANTS: One participant in this clinical case report. INTERVENTIONS: Full-thickness excision of the clefted eyelid, brow, and forehead tissue was performed bilaterally to develop medial and lateral eyebrow and forehead flaps. Right: the forehead/brow flap was rotated caudally to reapproximate the eyebrow and an eyelid rotation flap was also used to reapproximate the lid margin. Left: forehead/brow rotation flap allowed realignment of the eyebrow and a series of Z-plasties were used in the eyelid to reapproximate the lid margin and to lengthen the eyelid. MAIN OUTCOME MEASURE(S): Develop and construct a reliable reconstruction with full-eyelid closure and minimal donor site morbidity. RESULTS: Complete eyelid closure bilaterally was achieved intraoperatively, and was maintained at 6-month follow-up with no evidence of ocular pathology. CONCLUSIONS: Large, bilateral upper eyelid colobomas require repair to prevent blindness. Although free tarsomarginal grafts and lid-sharing procedures have been described, we demonstrate that large rotation flaps designed along the cleft margin can provide a reliable reconstruction and minimize donor-site morbidity.

Rank and Research: The Correlation Between Integrated Plastic Surgery Program Reputation and Academic Productivity.

BACKGROUND: Determinants of residency program reputation are multifactorial and include operative training, academic productivity, and geographic location. However, little is known about these relationships. This study aims to investigate the correlation between academic reputation of integrated plastic surgery programs and the research productivity of their respective full time faculty members. METHODS: Program rankings were identified from the 2016 Doximity standings and divided into 4 quartiles (Q1-Q4). Full-time faculty and program directors were identified through program websites. Publications by faculty members from 2000 to 2015 were identified through PubMed. Variables collected included affiliated institution, date of publication, authorship position, and journal. RESULTS: A total of 67 programs with 607 full-time faculty members were identified. Although not significantly different, program directors had a higher mean number of publications compared with faculty members for Q1, Q2, and Q4. Program departmental chairs had a significantly higher mean number of publications for Q1 and Q2. The Q1 faculty had a significantly higher mean number of publications as compared with Q2, Q3, and Q4. Although all quartiles had similar mean first author publications, Q1 and Q2 had more middle and last author publications. In addition, the higher-ranked programs were more likely to have faculty as middle authors of articles with more contributors. They were also more likely to publish in Plastic Reconstructive Surgery compared with other journals. CONCLUSIONS: Academic reputation of integrated plastic surgery residency programs is correlated with the scholarly activity of full-time faculty.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplications. Although previous studies exist, each was of small size, and it remains to be determined whether there are parent-of-origin biases for the de novo 22q11.2 deletion. To address this question, we genotyped a total of 389 DNA samples from 22q11DS-affected families. A total of 219 (56%) individuals with 22q11DS had maternal origin and 170 (44%) had paternal origin of the de novo deletion, which represents a statistically significant bias for maternal origin (p = 0.0151). Combined with many smaller, previous studies, 465 (57%) individuals had maternal origin and 345 (43%) had paternal origin, amounting to a ratio of 1.35 or a 35% increase in maternal compared to paternal origin (p = 0.000028). Among 1,892 probands with the de novo 22q11.2 deletion, the average maternal age at time of conception was 29.5, and this is similar to data for the general population in individual countries. Of interest, the female recombination rate in the 22q11.2 region was about 1.6-1.7 times greater than that for males, suggesting that for this region in the genome, enhanced meiotic recombination rates, as well as other as-of-yet undefined 22q11.2-specific features, could be responsible for the observed excess in maternal origin.

Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.

Osteopathia striata with cranial sclerosis (OSCS) is caused by truncating mutations or deletions in the X linked gene, WTX, and is characterized by sclerotic striations of the metaphyses and diaphyses of long bones, pelvis, and scapula, along with craniofacial hyperostosis. Females typically manifest with craniofacial dysmorphisms including macrocephaly, hypertelorism, depressed nasal bridge, and hypoplastic maxilla, often have cleft palate, and less often extra skeletal anomalies. Here we report on a sporadic female patient with OSCS born at 33 weeks, with coarse facies, an abnormal head shape, cleft palate, pyloric stenosis, a small VSD, and laryngotracheomalacia sufficiently severe to require tracheostomy placement. Characteristic radiologic findings were apparent on skeletal survey and cranial CT. At age 5, she showed mild delays in neurodevelopmental milestones. A deletion of WTX and the adjacent gene ASB12 was detected via MLPA and there was no skewing of the X-chromosome inactivation pattern (58:42). Neurodevelopmental delays can manifest in females with OSCS and deletions at the WTX locus, but deletion of the ASB12 gene in this case suggests it is unlikely to contribute to the pathogenesis of this complication. Implication of ASB12 in the patient's other unique features such as laryngotracheomalacia and pyloric stenosis is also unlikely. This case illustrates an early presentation of severe OSCS in a female without skewing of the X-chromosome inactivation pattern, emphasizing the variable expressivity of this disorder.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000-1/4,000 live births. Approximately 9-11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The TBX1 gene, a member of the T-box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of Tbx1 in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, we hypothesized that DNA variants in the remaining allele of TBX1 may confer risk to CP in patients with 22q11DS. To test the hypothesis, we evaluated TBX1 exon sequencing (n = 360) and genotyping data (n = 737) with respect to presence (n = 54) or absence (n = 683) of CP in patients with 22q11DS. Two upstream SNPs (rs4819835 and rs5748410) showed individual evidence for association but they were not significant after correction for multiple testing. Associations were not identified between DNA variants and haplotypes in 22q11DS patients with CP. Overall, this study indicates that common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant.

Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.

Agnathia-otocephaly is a rare, often lethal malformation characterized by absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears (melotia, synotia). Etiologies have been linked to both genetic and teratogenic factors and to date, a definitive, commonly identifiable cause has not been recognized. Mouse and human genetic studies have implicated OTX2 and PRRX1 as potential candidate genes for agnathia-otocephaly. In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. The proband, a male born at 31 weeks, displayed severe micrognathia, microstomia, posteriorly-rotated and low set ears, and downward slanting palpebral fissures. Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected. This suggests that mutations in different genes or environmental causes are responsible.

Computed tomography contrast enhancement principles and the use of high-concentration contrast media.

Numerous pharmacokinetic and physiologic interactions are involved in the utilization of iodinated contrast in computed tomography. Patient related factors, injection related variables including contrast material concentration, and intravascular and organ specific imaging techniques are but a few of the principles that must be understood. With the advancement of faster CT scanners, these factors must be considered for optimal contrast enhancement.