Surgical Correction of Craniofacial Microsomia: Evaluation of Interventions in 565 Patients at Three Major Craniofacial Units.

BACKGROUND: Craniofacial microsomia is characterized by an asymmetric hypoplasia of derivatives of the first and second pharyngeal arch, leading to a variety of phenotypic presentations. Studies on surgical correction of patients with craniofacial microsomia have small cohorts, leaving controversial opinions on the optimal treatment modality, the indication for surgery, and the optimal timing of surgery. The purpose of this study was to evaluate the types of, timing of, and total number of surgical corrections performed and the number of surgical procedures in correlation to the severity of the phenotype. METHODS: A retrospective chart study was conducted including patients diagnosed with craniofacial microsomia from three large craniofacial units. Demographic, radiographic, and clinical information was obtained, including type and number of surgical procedures and age at the time of surgery. RESULTS: A total of 565 patients were included. In total, 443 (78.4 percent) of all patients underwent some form of surgery during their life, varying from skin tag removal to major craniofacial operations. The number of surgical interventions was higher with increasing severity of phenotype, bilateral presentation, and a younger age at the first intervention. CONCLUSIONS: Multiple surgical corrections are frequently seen in patients with a more severe or bilateral presentation. Furthermore, those who are treated earlier in life for correction of asymmetry of the mandible will undergo significantly more surgical procedures to correct the asymmetry later on, independent of the Pruzansky-Kaban type mandible. A prospective international multicenter study is designed with a uniform registration and outcome measurement tool to identify the optimal treatment strategy.

Using principal component analysis to describe the midfacial deformities in patients with craniofacial microsomia.

PURPOSE: Craniofacial microsomia (CFM) is the result of a disturbance in embryologic development and is characterised by an asymmetric, mostly unilateral facial underdevelopment. The aim of this study is to understand the midfacial involvement in CFM using principal component analysis (PCA). MATERIALS AND METHODS: Pre-operative data from 19 CFM and 23 control patients were collected. A set of 71 landmarks was placed on three-dimensional (3D) reconstructions of all skulls to compare both populations. PCA visualised variation within both groups and calculated the vector of change. Linear measurements were taken to compare ratios between the populations and between the affected and unaffected sides in CFM patients. RESULTS: PCA defined a vector that described shape changes between both populations. Videos showed the variation within the control and CFM group and the transformation from a mean CFM skull into a normal phenotype. Linear measurements showed a significant difference between the affected and unaffected sides in CFM patients. CONCLUSION: PCA has not been applied on asymmetrical data before, but it has proved to be a useful method to describe CFM. The virtual normalisation of a mean CFM skull enables visualisation of the bony shape changes, which is promising to delineate and to plan surgical correction and could be used as an outcome measure.

Feeding difficulties in craniofacial microsomia: A multicenter retrospective analysis of 755 patients.

A retrospective cohort study was initiated to analyse the prevalence, risk factors and treatment modalities of feeding difficulties in patients with craniofacial microsomia. This study included 755 subjects with craniofacial microsomia from three craniofacial centres. Medical charts were reviewed for severity of the deformity, documented feeding difficulties, age at which feeding difficulties first presented and treatment, presence of cleft lip/palate, extracraniofacial anomalies, and obstructive sleep apnoea. In total, 199 patients (26.4%) had documented feeding difficulties. Patients with bilateral involvement, Pruzansky-Kaban III classification, cleft lip/palate, or obstructive sleep apnoea were significantly more at risk for developing feeding difficulties and significantly more often needed additional feeding via a nasogastric tube than patients without these risk factors.

Part 2: Is the maxillary canting and its surgical correction in patients with CFM correlated to the mandibular deformity?

INTRODUCTION: Patients with Craniofacial Microsomia (CFM) mandibles Types I/IIa benefit from combined LeFort 1 osteotomy and Mandibular Distraction Osteogenesis (LeFort + MDO); Type IIb from LeFort + MDO or Bimaxillary osteotomy (BiMax); and Type III from BiMax (with 50% of cases having preceding mandibular procedures, including patient-fitted prosthesis); as seen in Part 1. This leads to the question how maxillary and mandibular hypoplasia are correlated and influence the types of maxillary correction. MATERIAL AND METHODS: A retrospective chart study was conducted including patients diagnosed with CFM from 2 large craniofacial units. Radiographic and clinical information were obtained. Unilateral affected patients with available (ConeBeam) CT-scan of the maxillary-mandibular complex, without treatment of the upper jaw prior to the CT-scan were included. A maxillary cant grading system was set up and evaluated. Pearson correlation coefficients were used to correlate the maxillary cant and the severity of the mandibular hypoplasia. RESULTS: Eighty-one patients were included, of whom 39.5% had a Pruzansky-Kaban type III mandible and 42% a mild maxillary cant. There was a significant positive correlation between severity of the mandibular hypoplasia and the categorized canting (r = 0.370; p < 0.001; n = 81). Twenty-four patients had maxillary surgery, mainly a BiMax. CONCLUSION: There is a positive correlation between the severity of mandibular hypoplasia and maxillary cant. The severity of mandibular hypoplasia seems to dictate an intervention for both maxillary and mandibular surgery.

Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review.

INTRODUCTION: Mandibular reconstruction in craniofacial microsomia (CFM) has been described and reviewed at length although final results are not always (aesthetically) satisfactory due to maxillo-mandibular asymmetry, for which optimal correction techniques remain unclear. The aim of this systematic review is to provide an overview of the surgical options for maxillary correction in patients with unilateral CFM. MATERIAL AND METHODS: MEDLINE/Pubmed, Embase, Cochrane and Web of Science databases were searched up to April 15, 2017. Inclusion criteria were: studies reporting patients with unilateral CFM (n > 4) who had maxillary correction (with/without simultaneous mandibular correction) with a minimal follow-up of 6 months. The outcome measures included type of treatment (including preceding facial procedures), type and severity of mandibular deformity (by Pruzansky-Kaban system: Types I/IIa/IIb/III), asymmetry analysis method, outcome (i.e. occlusion, canting, stability, esthetic result, facial symmetry), complications and additional treatment needed. RESULTS: Nine studies met the inclusion criteria. Analysis showed that Le Fort I + mandibular distraction osteogenesis (LeFort + MDO) and BiMaxillary osteotomy (BiMax) were used for treatment, as single or multiple-stage procedures. All studies reported aesthetic and functional improvement. CONCLUSION: Types I/IIa benefited from LeFort + MDO; Type IIb from LeFort + MDO or BiMax; and Type III from BiMax (with 50% of cases having preceding mandibular procedures, including patient-fitted prosthesis) at a mean age of 20.2 years. Four studies recommended additional (esthetic) procedures.

Is There a Difference in Orbital Volume Between Affected and Unaffected Sides in Patients With Unilateral Craniofacial Microsomia?

PURPOSE: Craniofacial microsomia (CFM) is characterized by malformations of structures derived from the first and second pharyngeal arches. The orbit is variably affected. The purpose of this study was to determine whether there is a difference in orbital volume between affected and unaffected sides in patients with unilateral CFM. The specific aims were to 1) measure orbital volume, 2) compare affected and unaffected sides, 3) evaluate the correlation between clinical evaluation of orbital size and volumetric measurement, and 4) determine whether there is a correlation between orbital volume and severity of mandibular deformity. MATERIALS AND METHODS: This study is a retrospective case series of patients with unilateral CFM from Boston Children's Hospital (Boston, MA) who had a computed tomographic (CT) scan. Manual segmentation of the orbit using Mimics software (Materialise, Leuven, Belgium) was performed on CT images of the 2 orbits. The predictor variable was laterality (affected vs unaffected side) and the primary outcome variable was orbital volume. Wilcoxon signed rank test was used to compare these measurements and determine whether the affected side differed from the unaffected side. The correlation between orbital volume and Pruzansky-Kaban type of mandibular deformity, as documented in the medical record, was determined using the Spearman rank correlation coefficient. RESULTS: Thirty-nine patients were included. Orbital volume was 10% smaller on the affected side (P = .001) in 80% of patients. There was no correlation between orbital size and severity of mandibular involvement. CONCLUSION: The results of this study showed a marked difference in orbital volume between affected and unaffected sides in patients with unilateral CFM. These differences were small and might not be clinically relevant. Orbital volume did not correlate with severity of mandibular deformity.

Evaluation of Swallow Function in Patients with Craniofacial Microsomia: A Retrospective Study.

Craniofacial microsomia (CFM) is characterized by underdevelopment of the structures derived from the first and second pharyngeal arches resulting in aesthetic, psychological, and functional problems including feeding and swallowing difficulties. The aim of this study is to gain more insight into swallowing difficulties in patients with CFM. A retrospective study was conducted in the population of patients diagnosed with CFM at three major craniofacial units. Patients with feeding difficulties and those who underwent video fluoroscopic swallow (VFS) studies were included for further analyses. The outcome of the VFS-studies was reviewed with regard to the four phases of swallowing. In our cohort, 13.5% of the 755 patients were diagnosed with swallowing difficulties. The outcome of the VFS-studies of 42 patients showed difficulties in the oral and pharyngeal phases with both thin and thick liquids. Patients with more severe mandibular hypoplasia showed more difficulties to form an appropriate bolus compared to patients who were less severely affected. This is the first study to document swallowing problems in patients with CFM. Difficulties were seen in both the oral and pharyngeal phases. We recommend routine screening for swallowing issues by a speech and language therapist in all patients with CFM and to obtain a VFS-study in patients with a type III mandible.

Craniofacial and extracraniofacial anomalies in craniofacial microsomia: a multicenter study of 755 patients'

PURPOSE: Craniofacial microsomia (CFM) is a congenital malformation of structures derived from the first and second pharyngeal arches leading to underdevelopment of the face. However, besides the craniofacial underdevelopment, extracraniofacial anomalies including cardiac, renal and skeletal malformation have been described. The aim of this study is to analyse a large population of patients with regard to demographics, typical phenotypes including craniofacial and extracraniofacial anomalies, and the correlations between the different variables of this condition. MATERIAL AND METHODS: A retrospective study was conducted in patients diagnosed with CFM with available clinical and/or radiographic images. All charts were reviewed for information on demographic, radiographic and diagnostic criteria. The presence of cleft lip/palate and extracraniofacial anomalies were noted. Pearson correlation tests and principal component analysis was performed on the phenotypic variables. RESULTS: A total of 755 patients were included. The male-to-female ratio and right-to-left ratio were both 1.2:1. A correlation was found among Pruzansky-Kaban, orbit and soft tissue. Similar correlations were found between ear and nerve. There was no strong correlation between phenotype and extracraniofacial anomalies. Nevertheless, extracraniofacial anomalies were more frequently seen than in the 'normal' population. Patients with bilateral involvement had a more severe phenotype and a higher incidence of extracraniofacial and cleft lip/palate. CONCLUSION: Outcomes were similar to those of other smaller cohorts. Structures derived from the first pharyngeal arch and the second pharyngeal arch were correlated with degree of severity. Extracraniofacial anomalies were positively correlated with CFM. The findings show that bilaterally affected patients are more severely affected and should be approached more comprehensively.

Blowout fracture in a 3-year-old.

A 3-year-old patient was referred to the oral and maxillofacial department with a fracture of the orbital floor. Due to the lack of clinical symptoms, a conservative approach was chosen. After 3 weeks, an enophthalmos developed. The orbital floor reconstruction was successfully performed through a transconjunctival approach. This case highlights the rarity of pure blowout fractures in young children. The specific presentation and diagnostics of orbital floor fractures in children and the related surgical planning and intervention are discussed.