Faculty Bibliography

BACKGROUND: Infants with craniofacial dysostosis syndromes may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. Delayed presentation of their calvarial phenotype is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major sutures toward and within the skull base. The authors hypothesized that minor suture synostosis is present in infants with syndromic, progressive postnatal craniosynostosis, and is associated with major suture synostosis. METHODS: The authors performed a two-institution review of infants (<1 year) with syndromic craniosynostosis and available computed tomographic scans. Major (i.e., metopic, sagittal, coronal, and lambdoid) and minor suture/synchondrosis fusion was determined by two craniofacial surgeons and one radiologist using Mimics or Radiant software. RESULTS: Seventy-three patients with 84 scans were included. Those with FGFR2 mutations were more likely to lack any major suture fusion (OR, 19.0; p = 0.044). Minor suture fusion occurred more often in the posterior branch of the coronal arch (OR, 3.33; p < 0.001), squamosal arch (OR, 7.32; p < 0.001), and posterior intraoccipital synchondroses (OR, 15.84; p < 0.001), among FGFR2 versus other patients. Patients (n = 9) with multiple scans showed a pattern of minor suture fusion followed by increased minor and major suture synostosis. Over 84 percent of FGFR2 patients had minor suture fusion; however, six (13 percent) were identified with isolated major suture synostosis. CONCLUSIONS: Minor suture fusion occurs in most patients with FGFR2-related craniofacial dysostosis. Syndromic patients with patent calvarial sutures should be investigated for minor suture involvement. These data have important implications for the pathophysiology of skull growth and development in this select group of patients. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.

Background/Purpose: The aim of this study is to perform a cephalometric evaluation of the craniofacial skeleton of patients with TCS. Methods/Description: Retrospective single institution review of all patients (N= 104) with TCS and a preoperative cephalogram was conducted (30 patients). Patients were divided into three groups based on their ages: infancy (mean 0.62 yr; range:0.01-2.2 yrs) adolescence (mean 7.91 yr, range:5.18-11.26 yrs) and post adolescent-young adulthood (mean 17.04 yr; range:15.49-21.36 yrs). Right and left sides were evaluated separately if asymmetry was noted to be present (44 sides). The cephalometric variables were compared to Bolton and Moyers norms and also to each other using ANOVA and student's t-test. Results: All maxillary and mandibular measurements were significantly different from normative values with the exception of SNA and upper gonial angle (Na-Go-Me). SNB, SNPg angles were severely decreased and Pg (Pg-NB) was significantly retruded (p<0.001). Gonial angle (Ar-Go-Me) was significantly wider than normal as lower gonial angle (Ar-Go-Na) and antegonial angles were significantly increased (p<0.001) in all three age groups. There was no difference among the groups in terms of increased antegonial angles. All vertical plane angles (SN-MP, SN-GoGN, FH-MP, SN-PP, PP-MP) were increased significantly as well (p<0.001). Correspondingly, the ratio between lower anterior face height and total face height was significantly higher, while posterior face height to anterior face height was significantly decreased (p<0.001). More than half of the patients (N= 17/30) possessed a parasagittal symphyseal notch at the anterior surface of the chin. The depth and width of this notch were increased from infancy to adolescence (p<0.01). Accordingly, symphysis inclination (SN-Symp.) increased significantly over time (p<0.01). The maxillary posterior region showed decreased height (p<0.01). Our findings suggest that the maxillo-mandibular deformity demonstrates what we have termed a 'parasagittal orbito-maxillo-zygomatic cleft' which is aligned along the path of maximum mandibular atresia (diminished or missing coronoid, condylar processes and rami. Conclusions: When comparing cephalometric values in patients with TCS to Bolton and Moyers, all structures showed varying degrees of deformation or dislocation with the exception of maxillary sagittal position. These changes were most prevalent in the posterior maxillae, mandible, symphysis and antegonial area of the mandible. Certain skeletal changes did not show variance from infancy to adulthood, such as maxilla-mandibular angle and Wits value, however changes of the symphysis region became more severe over time. Further, soft tissue facial convexity increased severely in all growth periods

Background/Purpose: Amniotic band sequence (ABS) is a complex congenital anomaly in which infants with no known genetic mutation have bands of maternal amniotic tissue wrapped around body parts, most commonly the limbs and digits. Two disparate theories attempt to explain the etiology of ABS. The extrinsic theory posits that disruption of the amnion is the primary event. The intrinsic theory suggests that the bands are the result of a fetal anomaly during development. Neither theory is widely accepted with proponents of both citing evidence to support their arguments. ABS is frequently associated with complex craniofacial clefting. We report a novel variation on this presentation, which strongly supports the intrinsic theory. Methods/Description: Three patients from two centers with complex craniofacial clefting and ABS were identified. The nature of the overlap of craniofacial clefting with banding phenotypes was characterized for each patient, with photographs, comprehensive physical exams, and Genetics evaluations. Results: The three patients presented with hypertelorism, plagioceph-aly, and different forms of complex craniofacial clefting: Patient 1-bilateral Tessier 2 with left Tessier 12 clefts, a left extrophic lacrimal duct and bilateral blindness, Patient 2-left Tessier 2 and right Tessier 3 clefts, Patient 3-right Tessier 12 cleft. Patient 1 had amniotic bands connecting the left extrophic lacrimal duct, left brow and left hand, with resultant complex acrosyndactyly. Patient 2 had partial amputations of the left 3rd-5th digits, and autotransplantation of 2 digits, with one along the ipsilateral Tessier 3 cleft and one on the parietal scalp, 2 cm above the left ear. Patient 3 had amputations of the 1st-4th digits of the right hand, and autotransplantation of a portion of an unspecified finger remnant onto the right brow. Conclusions: All three patients presented with amniotic bands connecting complex craniofacial clefts with ipsilateral digits, or amputated finger remnants reimplanted within ipsilateral clefts. This finding supports a model in which complex craniofacial clefts result in areas of exposed mesenchyme within the embryo. These exposed sticky areas are susceptible to adherence of ipsilateral fetal hands. In support of this possibility, facial and early digital development are temporally coincident, and these structures are anatomically adjacent early during embryogenesis. Exposed craniofacial mesenchyme also provides a surface for amniotic attachment, resulting in bands that lead to ABS, digital amputation and autotransplantation. An alternative extrinsic interpretation of this finding in which the amnion primarily ruptures is not supported, as this would have to occur around 8 weeks of embryonic development to cause the observed phenotypes. This is well before the amnion is likely to rupture from extrinsic forces. Therefore, these findings strongly suggest that development of amniotic bands occurs secondary to intrinsic fetal anomalies

Background/Purpose: Children with craniofacial dysostosis syndromes including Apert, Pfeiffer and Crouzon, may present with midface abnormalities but without major (calvarial) suture synostosis and head shape anomalies. This presentation is known as progressive postnatal craniosynostosis. Minor sutures/synchondroses are continuations of major calvarial sutures toward and within the skull base. Although skull base changes are associated with midface abnormalities, their role in major suture synostosis and calvarial shape anomalies are uncertain. We hypothesized that minor suture synostosis is present in infants with syndromic, progressive postnatal craniosynostosis, and underlie major suture synostosis. Methods/Description: We performed a multi-institutional review (CHOP and NYU) of infants (<1 year) with syndromic craniosynos-tosis and available CT scans. Major (metopic, sagittal, coronal, lambdoid) and minor suture/synchondrosis fusion was determined by two craniofacial surgeons and one radiologist using Mimics or Radiant software. Interrater-reliability scores were excellent between institutions (94.1%, kappa-0.821). Statistical assessments were performed using SPSS. Results: Seventy-three patients with 84 scans were included, with diagnoses of Crouzon, Pfeiffer, Apert, Antley-Bixler, Muenke, and Saethre-Chotzen syndromes. 13 scans lacked major suture synostosis; 10 of these had minor suture fusion present, and the remaining 3 had neither major nor minor suture synostosis. A diagnosis with an FGFR2 mutation was strongly associated with a lack of major suture fusion (OR 19.0, p=0.044). Examination of individual sutures revealed that minor suture fusion occurred significantly more often in the posterior branch of the coronal arch (OR 3.33, p<0.001), squamosal arch (OR 7.32, p<0.001) and posterior intraoccipital synchondroses (OR 15.84, p<0.001), among FGFR2 vs other patients. A strong temporal correlation between age at CT and suture fusion was identified for the metopic suture and 58% of minor sutures, but not in other major sutures. An analysis of those (n=9) with multiple scans revealed a pattern of minor suture fusion followed by increased minor and major suture synostosis. Four of these had no major suture synostosis initially, but progressed to increased minor suture fusion with or without major suture involvement. Over 84% of FGFR2-group patients had minor suture fusion, however 6 patients were identified with isolated major suture synostosis. This suggests that although minor suture fusion is common in these patients, it is not required for major suture synostosis. Conclusions: Perinatal, progressive, skull base suture/synchondrosis fusion occurs in most patients with FGFR2-related craniofacial dysostosis. Syndromic patients with patent calvarial sutures and findings consistent with increased intracranial pressure should be investigated for minor suture involvement. These data have important implications for the pathophysiology of skull growth and development in this select group of patients

Craniofacial surgeons perform operations that involve exposure of the dura. Typical procedures include cranial vault remodeling (CVR), fronto-orbital advancement (FOA), Le Fort III, monobloc, bipartition advancement, or distraction. Cerebrospinal fluid (CSF) fistulas remain one of the most common complications encountered, occurring in up to 30% of patients. Cerebrospinal fluid fistulas can be encountered intraoperatively, acutely, or in the late postoperative period. Traditional management has been well described in the neurosurgical literature. While several studies of complications exist, there is a relative lack of adequate information for craniofacial surgeons. The authors review current literature and provide 3 patients to illustrate our management paradigm.The authors review 30 years of experience at our institution and the pertinent literature. The mean rate of CSF fistula was 11.2%; rates were lowest for FOA/CVR, 5.5%. Patients with fistulas persisting after 2 days of conservative therapy or whom were symptomatic prompted placement of a lumbar subarachnoid catheter. Failure of the leak to resolve with CSF diversion prompted exploration and therapy which could include a patch, pericranial flap, and/or endonasal repair with septal flaps. Three patients are used to illustrate the paradigm, all of which have had no recurrence thus far.Cerebrospinal fluid fistula remains one of most common complications craniofacial surgeons encounter. Although neurosurgeons are often part of the clinical team, the craniofacial surgeon should be familiar with all aspects of treatment. Prompt diagnosis and appropriate knowledgeable management may avoid morbidity and mortality.

BACKGROUND: Cleft and craniofacial centers require significant investment by medical institutions, yet variables contributing to their academic productivity remain unknown. This study characterizes the elements associated with high academic productivity in these centers. METHODS: The authors analyzed cleft and craniofacial centers accredited by the American Cleft Palate-Craniofacial Association. Variables such as university affiliation; resident training; number of plastic surgery, oral-maxillofacial, and dental faculty; and investment in a craniofacial surgery, craniofacial orthodontics fellowship program, or both, were obtained. Craniofacial and cleft-related research published between July of 2005 and June of 2015 was identified. A stepwise multivariable linear regression analysis was performed to measure outcomes of total publications, summative impact factor, basic science publications, total journals, and National Institutes of Health funding. RESULTS: One hundred sixty centers were identified, comprising 920 active faculty, 34 craniofacial surgery fellowships, and eight craniofacial orthodontic fellowships; 2356 articles were published in 191 journals. Variables most positively associated with a high number of publications were craniofacial surgery and craniofacial orthodontics fellowships (beta = 0.608), craniofacial surgery fellowships (beta = 0.231), number of plastic surgery faculty (beta = 0.213), and university affiliation (beta = 0.165). Variables most positively associated with high a number of journals were craniofacial surgery and craniofacial orthodontics fellowships (beta = 0.550), university affiliation (beta = 0.251), number of plastic surgery faculty (beta = 0.230), and craniofacial surgery fellowship (beta = 0.218). Variables most positively associated with a high summative impact factor were craniofacial surgery and craniofacial orthodontics fellowships (beta = 0.648), craniofacial surgery fellowship (beta = 0.208), number of plastic surgery faculty (beta = 0.207), and university affiliation (beta = 0.116). Variables most positively associated with basic science publications were craniofacial surgery and craniofacial orthodontics fellowships (beta = 0.676) and craniofacial surgery fellowship (beta = 0.208). The only variable associated with National Institutes of Health funding was craniofacial surgery and craniofacial orthodontics fellowship (beta = 0.332). CONCLUSION: Participation in both craniofacial surgery and orthodontics fellowships demonstrates the strongest association with academic success; craniofacial surgery fellowship, university affiliation, and number of surgeons are also predictive.

BACKGROUND: Reconstruction of maxillary defects following tumor extirpation is challenging because of combined aesthetic and functional roles of the maxilla. One-stage reconstruction combining osseous free flaps with immediate osseointegrated implants are becoming the standard for mandibular defects, and have similar potential for maxillary reconstruction. METHODS: A woman with maxillary Ewing sarcoma successfully treated at age 9 with neoadjuvant chemotherapy, right hemimaxillectomy, and obturator prosthetic reconstruction presented for definitive reconstruction, complaining of poor obturator fit, and hypernasality. Her reconstruction was computer-simulated by a multidisciplinary team, consisting of left hemi-Lefort I advancement and right maxillary reconstruction with a free fibula flap with immediate osseointegrated implants and dental prosthesis. RESULTS: Full dental restoration, midface projection, and oral fistula corrections were achieved in 1 operative stage using this approach. CONCLUSIONS: This patient demonstrates a successful approach for maxillary reconstruction using computer-planned orthognathic surgery with free fibula reconstruction and immediate osseointegrated implants with dental prosthesis.

Craniofacial microsomia remains the second most common craniofacial deformity after cleft lip and palate. Mandibular pathology has been classically scored from type I to type III by the modified Pruzansky-Kaban classification. The authors report a case of a 5-year-old patient with Goldenhar syndrome and bilateral type III craniofacial macrosomia. The patient had absence of bilateral glenoid fossas, condyles, coronoids, and rami as well as hypoplasia of the symphysis, parasymphysis, and mandibular body. Reconstruction was performed using 2 costochondral rib autografts to reconstruct a ramus and assist in the development of a neo-glenoid fossa at the cranial base. An additional portion of costal rib graft was used to augment the deficient symphysis. The patient was placed in class III occlusion postoperatively using maxillo-mandibular fixation screws and heavy elastics. The bone grafts healed without complications with no evidence of ankylosis, nonunion, or resorption to date. For the most severe forms of craniofacial microsomia, costochondral grafting remains an effective initial technique for lengthening the hypoplastic mandible and providing a foundation for future distraction.

Background/Purpose: Multidisciplinary Cleft and Craniofacial Centers require significant investment and maintenance by medical schools and/or departments, and yet the variables contributing to their academic productivity remain unknown. This study characterizes the elements that result in high academic productivity in Cleft and Craniofacial Centers. Methods/Descriptions: All cleft and craniofacial centers accredited by American Cleft Palate-Craniofacial Association were included. Vari-ables such as university affiliation (UNI); resident training (RES); number of active surgical and orthodontic faculty (FAC); and investment in a craniofacial surgery (CF) or craniofacial orthodontics (CO) fellowship program, or both (CF+CO), were obtained for each center. All craniofacial and cleft-related research published between July 2005 and June 2015 was identified using the National Library of Medicine database; for each article, journal of publication and impact factor were also recorded. A stepwise multivariable linear regression analysis was performed on the listed variables to outcome measures of total publications, summative impact factor, and basic science publications. Results: A total of 160 centers were identified, comprising 690 active faculty, 29 craniofacial fellowships and 9 orthodontic fellowships; 2,093 articles were published in 199 journals within the study period. Variables most positively associated to a high number of publications were, in order: CF+CO (beta, CF+CO = 0.555, p < 0.001), CF (beta, CF= 0.248, p < 0.001), RES (beta, RES = 0.198, p = 0.003). Variables most positively associated to a high summative impact factor are, in order: CF+CO (beta, CF+CO = 0.551, p < 0.001), CF (beta, CF = 0.313, p < 0.001), FAC (beta, FAC = 0.183, p = 0.006). Variables most positively associated to basic science publications are, in order: CF+CO (beta, CF+CO=0.491, p < 0.001), CF (beta, CF=0.322, p < 0.001), and RES (beta, RES = 0.164, p = 0.032). Conclusions: Participation in both craniofacial surgery and orthodontic fellowships demonstrate the strongest association with academic success; craniofacial fellowship alone, residency programs and number of active faculty are also predictive. Cleft and Craniofacial Centers interested in academic performance should allocate funds and resources into these variables, particularly interdisciplinary partnerships between surgery and dentistry

Background/Purpose: Septal deviation is a common finding in skeletally mature patients with cleft lip and palate (CL/P), however the contribution of the cartilaginous and bony septum to airway obstruction is poorly defined. This study characterizes the septal and airway anatomy in skeletally mature patients with CL/P utilizing cone beam computed tomography (CBCT) and will help guide airway management of this patient population at the time of definitive rhinoplasty. Methods/Descriptions: This is a retrospective single institution review of all CL/P patients over the age of 15 who have undergone CBCT analysis. Septal deviation was measured in coronal sections of CBCT scans at the cartilaginous septum [anterior nasal spine (ANS)], and bony septum [posterior nasal spine (PNS) and midpoint between the ANS and PNS (MID)]. Airway obstruction was defined as the smallest linear distance between nasal septum and adjacent turbinate and was similarly measured at all three points. Superior (perpendicular plate of ethmoid) and inferior (vomer) bony septal displacement was measured as an angle from vertical at the coronal slice of maximal septal deviation. CL/P patients were compared to age-matched controls using Student's t-test. Stepwise multivariable linear regression was used to compare septal deviation to obstruction. Measurements were performed by two separate raters and interrater reliability was assessed using Pearson's r coeffecient. Statistical significance was held at p<0.05. Results: 24 CL/P patients and 16 age-matched controls were identified for the study. Interrater reliability for 210 independent measurements was r=0.94 (p<0.0001). Results are reported as CL/P versus control. Septal deviation was significantly increased at the ANS (2.1+/-2.2 mm vs 0.7+/-1.0 mm, p=0.03), MID (4.6+/-3.1 mm vs 2.2+/-1.2 mm, p=0.01), and PNS (2.9+/-1.8 mm vs 1.0+/-0.6 mm, p=0.0002). The airway was significantly obstructed at the ANS (1.8+/-0.8 mm vs 2.3+/-0.6 mm, p=0.03). Maximal septal deviation occurred at the bony septum in 39 of 40 patients. Both the perpendicular plate of the ethmoid (14+/-7.8degree vs 8.0+/-5.4degree, p=0.01) and vomer (25+/-15degree vs 9.0+/-7.9degree, p=0.0006) were significantly displaced from vertical. Midpoint bony septal deviation was a good predictor of anterior nasal airway obstruction (r=-0.525, p=0.008). Conclusions: Skeletally mature patients with a cleft demonstrate severe septal deviation which includes both cartilage and bone. Resection of the bony and cartilaginous septum should be considered at time of definitive rhinoplasty in CL/P patients