A retrospective cohort study on dental implant survival in patients with grafted alveolar clefts.

OBJECTIVES: The aim of this study was to assess the survival rate of dental implants inserted in an alveolar cleft area where one or more bone graft procedures were performed and to identify possible factors that affect the survival rate. MATERIALS AND METHODS: The available data from 78 implants placed in 64 patients with grafted alveolar clefts were retrospectively analysed. Statistical analyses were performed using Kaplan-Meier survival analysis, log-rank tests and univariable Cox proportional hazard models. RESULTS: The median follow-up period from insertion to the last follow-up appointment was 46 months (IQR: 29-79.3). In five patients, a single implant failed. This resulted in a cumulative survival rate of 95.0% at median follow-up. The factors investigated in this study did not have a significant effect on implant survival. CONCLUSIONS: Dental implants placed in patients with alveolar clefts are a reliable treatment option for dental rehabilitation.

Can Dynamic Magnetic Resonance Images Improve Prenatal Diagnosis of Robin Sequence.

BACKGROUND: Robin sequence (RS) is a triad of micrognathia, glossoptosis, and airway obstruction. Prenatal diagnosis of RS improves delivery planning and postnatal care, but the process for prenatal diagnosis has not been refined. The purpose of this study was to determine if dynamic cine magnetic resonance imaging (MRI) can improve the reliability of prenatal diagnosis for RS compared to current static imaging techniques. MATERIALS AND METHODS: This is a retrospective cross-sectional study including fetuses with prenatal MRIs obtained in a single center from January 2014 to November 2019. Fetuses were included if they: 1) had a prenatal MRI with cine dynamic sequences of adequate quality, 2) were live born, and 3) had postnatal craniofacial evaluation to confirm RS. Patients without postnatal confirmation of their prenatal findings were excluded. The primary predictor variable was imaging type (cine or static MRI). Outcome variables were tongue and airway measurements: 1) tongue height, 2) length and width, 3) tongue shape index, 4) observation of tongue touching the posterior pharyngeal wall, and 5) measurement of oropharyngeal space. All measurements were made independently on the cine images and on static MRI sequences for the same cohort of subjects by a pediatric radiologist. Data were analyzed using paired samples t tests and Fisher exact tests, and significance was set as P < .05. RESULTS: A total of 11 patients with RS were included in the study. The smallest airway space consistently demonstrated complete collapse on the cine series compared to partial collapse on static images (0 mm vs 1.7 ± 1.4 mm, P = .002). No other imaging variable was statistically significantly different between techniques. CONCLUSIONS: Cine imaging sequences on prenatal MRI were superior to static images in discerning complete collapse of the smallest airway space, an important marker of RS. This suggests a possible benefit to adding dynamic MRI evaluation for prenatal diagnosis of this condition.

The Accuracy of Computer-Assisted Surgical Planning in Predicting Soft Tissue Responses After Le Fort I Osteotomy: Retrospective Analysis.

PURPOSE: Mismatch between preoperative planning and surgical outcome in maxillofacial surgery relate to on-table replication of presurgical planning and predictive algorithm inaccuracy: software error was hereby decoupled from planning inaccuracy to assess a commercial software. The hypothesis was that soft tissue prediction error would be minimized if the surgical procedure was replicated precisely as planned and is independent of the extent of bone repositioning. MATERIALS AND METHODS: Cone-beam computed tomography scans of 16 Le Fort I osteotomy patients were collected at Boston Children's Hospital. Preoperative and postoperative models of bone and soft tissue were constructed and the maxilla repositioning was replicated. Each model was subdivided into 6 regions: mouth, nose, eyes, and cheeks. Soft tissue prediction (performed using Proplan CMF-Materialise) for each patient was compared with the relative postoperative reconstruction and error was determined. P <0.05 was considered significant. RESULTS: Le Fort I segment repositioning was replicated within 0.70±0.18 mm. The highest prediction error was found in the mouth (1.49±0.77 mm) followed by the cheeks (0.98±0.34 mm), nose (0.86±0.23 mm), and eyes (0.76±0.32). Prediction error on cheeks correlated significantly with mouth ( r =0.63, P < 0.01) and nose ( r =0.67, P < 0.01). Mouth prediction error correlated with total advancement ( r =0.52, P =0.04). CONCLUSIONS: ProPlan CMF is a useful outcome prediction tool; however, accuracy decreases with the extent of maxillary advancement even when errors in surgical replication are minimized.

Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia.

Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.

Establishing an International Interdisciplinary Research Network in Craniofacial Microsomia: The CARE Program.

OBJECTIVE: Craniofacial microsomia (CFM) is a broad clinical term used to describe a congenital condition most commonly involving the underdevelopment of the external ear, mandible, soft tissues, and facial nerve. Despite medical advances, understanding of the psychological health and healthcare experiences of individuals with CFM and their caregivers remains limited. This article describes a research program designed to address these knowledge gaps, and identify opportunities for psychosocial intervention and improved healthcare provision. DESIGN: The Craniofacial microsomia: Accelerating Research and Education (CARE) research program aims to: 1) Conduct up to 160 narrative interviews with individuals and caregivers to validate a conceptual framework; 2) Administer an online international survey of up to 800 individuals with CFM and caregivers to identify predictors of psychological distress; 3) Perform up to 60 semi-structured interviews with healthcare providers and advocacy leaders to examine the extent to which current healthcare provisions address identified patient needs; and 4) Establish a participant registry to build a longitudinal database and develop an international community. RESULTS: Teams in the USA and UK have been established, alongside an international, interdisciplinary Advisory Committee. Data analysis for Aim 1 is ongoing and informing the delivery of Aims 2-3. Aim 4 is also in development. A dedicated website serves as a recruitment tool, educational resource, and mechanism for engaging with the CFM community. CONCLUSIONS: The CARE program provides a comprehensive approach to understanding the experiences of individuals with CFM and their caregivers. Challenges encountered and lessons learned are shared for the benefit of the community.

Non-Surgical Respiratory Management in Relation to Feeding and Growth in Patients with Robin Sequence; a Prospective Longitudinal Study.

OBJECTIVE: To reflect upon our non-surgical respiratory management by evaluating clinical outcomes regarding airway, feeding, and growth during the first year of life in patients with Robin Sequence. DESIGN: Prospective study. SETTING: Sophia Children's Hospital, Rotterdam, the Netherlands. PATIENTS/ PARTICIPANTS: 36 patients with Robin Sequence who were treated between 2011 and 2021. INTERVENTIONS: Positional therapy and respiratory support. MAIN OUTCOME MEASURE(S): Data on respiratory outcomes included polysomnography characteristics and capillary blood gas values. Feeding outcomes were based on the requirement of additional tube feeding. Outcomes on growth were expressed as standard-deviation-scores (SDS) for weight-for-age (WFA) and height-for-age (HFA). RESULTS: Twenty patients were treated with positional therapy (PT), whilst the other 16 patients required respiratory support. Twenty-two patients presented with non-isolated Robin Sequence (RS). During the first year of life, obstructive apnea hypopnea index decreased, oxygen levels enhanced, and capillary blood gas values improved. Eighty-six percent (31/36) experienced feeding difficulties, which completely resolved in 71% (22/31) during their first year of life. From start treatment, to stop treatment, to the age of 1 year, the SDS WFA worsened from -0.40 to -0.33 to -1.03, respectively. CONCLUSIONS: Non-surgical respiratory treatment resulted in an improvement of respiratory outcomes to near normal during the first year of life in patients with RS. These patients often experience feeding difficulties and endure impaired weight gain up to 1 year of age, despite near normalization of breathing. The high prevalence of feeding difficulties and impaired weight for age indicate the urgency for early recognition and adequate treatment to support optimal growth.

Barriers and Facilitators to the International Implementation of Standardized Outcome Measures in Clinical Cleft Practice.

OBJECTIVE: To identify barriers and facilitators to international implementation of a prospective system for standardized outcomes measurement in cleft care. DESIGN: Cleft teams that have implemented the International Consortium for Health Outcomes Measurement Standard Set for cleft care were invited to participate in this 2-part qualitative study: (1) an exploratory survey among clinicians, health information technology professionals, and project coordinators, and (2) semistructured interviews of project leads. Thematic content analysis was performed, with organization of themes according to the dimensions of the reach, effectiveness, adoption, implementation and maintenance (RE-AIM) framework: reach, effectiveness, adoption, implementation, and maintenance. RESULTS: Four cleft teams in Europe and North America participated in this study. Thirteen participants completed exploratory questionnaires and 5 interviewees participated in follow-up interviews. Survey responses and thematic content analysis revealed common facilitators and barriers to implementation at all sites. Teams reach patients either via email or during the clinic visit to capture patient-reported outcomes. Adopting routine data collection is enhanced by aligning priorities at the organizational and cleft team level. Streamlining workflows and developing an efficient data collection platform are necessary early on, followed by pilot testing or stepwise implementation. Regular meetings and financial resources are crucial for implementing, sustaining, analyzing collected data, and providing feedback to health care professionals and patients. Fostering patient-centered care was articulated as a positive outcome, whereas time presented challenges across all RE-AIM dimensions. CONCLUSIONS: Identified themes can inform ongoing implementation efforts. Intentionally investing time to lay a sound foundation early on will benefit every phase of implementation and help overcome barriers such as lack of support or motivation.

Emotional and Behavioral Problems in Children With a Cleft Lip With or Without Palate or an Infantile Hemangioma.

OBJECTIVE: Life can be challenging for children with a visible difference due to a medical condition, and they might be at risk for emotional and behavioral problems. This study examines emotional and behavioral problems in children with a cleft lip with or without palate (CL ± P) or an infantile hemangioma (IH) in relation to the visibility of the condition, the presence of additional condition-related problems, and parental affect. SETTING: This cross-sectional study took place in an academic medical hospital in the Erasmus MC Sophia Children's Hospital, the Netherlands. PARTICIPANTS: A total of 309 parents (mean age = 40.34, 44.00% male) of 182 children with CL ± P and 48 parents (mean age = 39.21, 37.50% male) of 33 children with an IH completed questionnaires. Children were 1.5 to 12 years old. RESULTS: Parents reported fewer child emotional and behavioral problems compared to normative data. Problems reported were mainly related to learning difficulties and parent gender, while visibility of the condition had no significant influence. Parental negative affect was related to child internalizing problems. Parental positive affect was not related to any of the outcome measures. CONCLUSIONS: Parents reported fewer problems for their children compared to normative data. This is inconsistent with previous research, showing similar or worse scores for these children compared to peers. Our findings may be explained by a protective parenting style, a response shift in parents, or problems developing at a later point in life.

Rasch Analysis of Patient- and Parent-Reported Outcome Measures in the International Consortium for Health Outcomes Measurement Standard Set for Cleft Lip and Palate.

OBJECTIVES: The aim of this study was to evaluate the psychometric performance of the patient- and parent-reported measures in the International Consortium for Health Outcomes Measurement (ICHOM) Standard Set for Cleft Care, and to identify ways of improving concept coverage. METHODS: Data from 714 patients with cleft lip and/or palate, aged 8 to 9, 10 to 12.5, and 22 years were collected between November 2015 and April 2019 at Erasmus University Medical Center, Boston Children's Hospital, Duke Children's Hospital, and from participating sites in the CLEFT-Q Phase 3 study. The Standard Set includes 9 CLEFT-Q scales, the Nasal Obstruction Symptom Evaluation (NOSE) questionnaire, the Child Oral Health Impact Profile-Oral Symptoms Scale (COHIP-OSS), and the Intelligibility in Context Scale (ICS). Targeting, item-fit statistics, thresholds for item responses, and measurement precision (PSI) were analyzed using Rasch measurement theory. RESULTS: The proportion of the sample to score within each instruments range of measurement varied from 69% (ICS) to 92% (CLEFT-Q teeth and COHIP-OSS). Specific problems with individual items within the NOSE and COHIP-OSS questionnaires were noted, such as poor item fit to the Rasch model and disordered thresholds (6 of 10). Reliability measured with PSI was above 0.82 for the ICS and all but one CLEFT-Q scale (speech distress). PSIs were lowest for the COHIP-OSS (0.43) and NOSE questionnaire (0.35). CONCLUSION: The patient- and parent-reported components within the facial appearance, psychosocial function, and speech domains are valid measures; however, the facial function and oral health domains are not sufficiently covered by the CLEFT-Q eating and drinking, NOSE, and COHIP-OSS, and these questionnaires may not be accurate enough to stratify cleft-related outcomes.

Modelling growth curves of the normal infant's mandible: 3D measurements using computed tomography.

OBJECTIVES: Data on normal mandibular development in the infant is lacking though essential to understand normal growth patterns and to discriminate abnormal growth. The aim of this study was to provide normal linear measurements of the mandible using computed tomography performed in infants from 0 to 2 years of age. MATERIAL AND METHODS: 3D voxel software was used to calculate mandibular body length, mandibular ramus length, bicondylar width, bigonial width and the gonial angle. Intra- and inter-rater reliability was assessed for these measurements. They were found to be sufficient for all distances; intra-class correlation coefficients were all above 0.9. Regression analysis for growth modelling was performed. RESULTS: In this multi-centre retrospective study, 109 CT scans were found eligible that were performed for various reasons (e.g. trauma, craniosynostosis, craniofacial abscesses). Craniosynostosis patients had larger mandibular measurements compared to non-craniosynostosis patients and were therefore excluded. Fifty-one CT scans were analysed. CONCLUSIONS: Analysis showed that the mandible increases more in size vertically (the mandibular ramus) than horizontally (the mandibular body). Most of the mandibular growth occurs in the first 6 months. CLINICAL RELEVANCE: These growth models provide insight into normal mandibular development in the first 2 years of life. This reference data facilitates discrimination between normal and abnormal mandibular growth.

Dental anomalies in craniofacial microsomia: A systematic review.

OBJECTIVE:  To provide an overview on the prevalence and types of dental anomalies in patients with craniofacial microsomia (CFM). Eligibility criteria: Inclusion criteria were CFM and dental anomalies. The following data were extracted: number of patients, methodology, mean age, sex, affected side, severity of mandibular hypoplasia, dentition stage and dental anomalies. INFORMATION SOURCES: Cochrane, EMBASE, PubMed, MEDLINE Ovid, Web of Science, CINAHL EBSCOhost and Google Scholar, searched until the 30 August 2019. Risk of bias: The quality was examined with the OCEBM Levels of Evidence. INCLUDED STUDIES: In total, 13 papers were included: four retrospective cohort studies, four prospective cohort studies, four case-control studies and one case series. Synthesis of results: The studies reported information on dental agenesis, delayed dental development, tooth size anomalies, tooth morphology and other dental anomalies. Description of the effect: Dental anomalies are more often diagnosed in patients with CFM than in healthy controls and occur more often on the affected than on the non-affected side. Strengths and limitations of evidence: This is the first systematic review study on dental anomalies in CFM. However, most articles were of low quality. INTERPRETATION: Dental anomalies are common in CFM, which might be linked to the development of CFM. The pathophysiology of CFM is not entirely clear, and further research is needed.

Can Robin Sequence Be Predicted From Prenatal Ultrasonography?

PURPOSE: Prenatal diagnosis of Robin sequence (RS) could promote safe delivery and improve perinatal care. The purpose of this study was to evaluate the correlation between prenatal ultrasonography (US) and magnetic resonance imaging (MRI) studies for assessing micrognathia to determine if US alone can be used to reliably screen for RS. MATERIALS AND METHODS: This was a retrospective case-control study of fetuses evaluated in the Advanced Fetal Care Center at Boston Children's Hospital from 2002 to 2017. To be included, 1) prenatal MRI and US must have been performed during the same visit, 2) the infant must have been live-born, and 3) the diagnosis must have been confirmed postnatally. Patients with images of inadequate quality for analysis were excluded. Patients were divided into 4 groups based on postnatal diagnosis: 1) RS (micrognathia, glossoptosis, and airway obstruction) (RS group), 2) micrognathia without RS (micrognathia group), 3) cleft lip and palate (CLP) without micrognathia (CLP group), and 4) gestational age-matched controls with normal craniofacial morphology (control group). The inferior facial angle (IFA) was measured using both imaging modalities and compared. Receiver operating characteristic curves were applied to identify a threshold for the diagnosis of RS from US. The sensitivity, specificity, positive predictive value, negative predictive value, and odds ratio were calculated. RESULTS: A total of 94 patients were included (mean gestational age at imaging, 24.9 ± 5.2 weeks), with 25 in the RS group (26.6%), 29 in the micrognathia group (30.9%), 23 in the CLP group (24.5%), and 17 in the control group (18.1%). The IFA was significantly smaller in the RS group than in all other groups on both US and MRI (P < .001). A moderate correlation was found between IFA measurements on US and MRI (intraclass correlation coefficient, 0.729). An IFA threshold on US of 45.5° maximized sensitivity (84%) and specificity (81%) for the diagnosis of RS. CONCLUSIONS: We suggest incorporating the IFA into routine prenatal US and referring patients for confirmatory MRI when the US IFA is lower than 45.5°.

Correlation of Intracranial Volume With Head Surface Volume in Patients With Multisutural Craniosynostosis.

Intracranial volume (ICV) is an important parameter for monitoring patients with multisutural craniosynostosis. Intracranial volume measurements are routinely derived from computed tomography (CT) head scans, which involves ionizing radiation. Estimation of ICV from head surface volumes could prove useful as 3D surface scanners could be used to indirectly acquire ICV information, using a non-invasive, non-ionizing method.Pre- and postoperative 3D CT scans from spring-assisted posterior vault expansion (sPVE) patients operated between 2008 and 2018 in a single center were collected. Patients were treated for multisutural craniosynostosis, both syndromic and non-syndromic. For each patient, ICV was calculated from the CT scans as carried out in clinical practice. Additionally, the 3D soft tissue surface volume (STV) was extracted by 3D reconstruction of the CT image soft tissue of each case, further elaborated by computer-aided design (CAD) software. Correlations were analyzed before surgery, after surgery, combined for all patients and in syndrome subgroups.Soft tissue surface volume was highly correlated to ICV for all analyses: r = 0.946 preoperatively, r = 0.959 postoperatively, and r = 0.960 all cases combined. Subgroup analyses for Apert, Crouzon-Pfeiffer and complex craniosynostosis were highly significant as well (P < 0.001).In conclusion, 3D surface model volumes correlated strongly to ICV, measured from the same scan, and linear equations for this correlation are provided. Estimation of ICV with just a 3D surface model could thus be realized using a simple method, which does not require radiations and therefore would allow closer monitoring in patients through multiple acquisitions over time.

What Are the Characteristics of the Upper Airway in Patients With Craniofacial Microsomia?

PURPOSE: Obstructive sleep apnea (OSA) is a common problem in patients with craniofacial microsomia (CFM); however, the exact pathophysiology in patients with CFM remains unclear. The first aim of this study was to evaluate upper airway volume and morphology in patients with CFM. The second aim was to identify risk factors for the presence of OSA. MATERIALS AND METHODS: A cross-sectional study was set up and 3 study groups were identified: 1) CFM with OSA, 2) CFM without OSA, and 3) control. Computed tomographic (CT) scans of the head and neck were included and used to create 3-dimensional models. The age-matched control group consisted of patients evaluated for traumatic head injury or epilepsy. Volumetric and morphologic parameters were measured. The results of patients with CFM were compared among the 3 study groups. Descriptive statistics were computed using the Pearson χ2 test for categorical variables and nonparametric tests for continuous variables. A multiple variable regression model was used to identify risk factors for OSA. RESULTS: In total, 79 patients with CFM were included, of which 25 patients were diagnosed with OSA. A total of 145 CT scans could be analyzed. In addition, a control population of 88 patients was identified. Oropharynx volume, mean cross-sectional area (CSA), minimal CSA, and minimal retropalatal area were found to be markedly smaller in patients with CFM compared with the control population. In contrast, in patients with CFM and OSA, minimal retroglossal area, sphericity, and uniformity markedly differed from those in patients without OSA. Sphericity was identified as the main predicting variable of OSA in patients with CFM. CONCLUSIONS: The upper airway of patients with CFM is markedly smaller and puts them at risk for developing OSA. Patients with CFM diagnosed with OSA have a markedly smaller CSA behind the base of the tongue and a difference in sphericity.

Etiology of Cleft Lip Lower Lip Deformity: Use of an Objective Analysis to Measure Severity.

OBJECTIVE: Measure lower lip thickness and eversion in patients with cleft lip and palate (CLP) and maxillary hypoplasia. The specific aims were to (1) compare lower lip thickness/eversion in patients with CLP to noncleft controls with maxillary hypoplasia, (2) determine differences between patients with unilateral CLP (UCLP) and bilateral CLP (BCLP), and (3) document changes in the lower lip that occur with Le Fort I advancement. DESIGN: Retrospective case-control study. SETTING: Tertiary care center. PATIENTS/PARTICIPANTS: Patients with available pre- and postoperative CT scans and 2D lateral photographs who had a Le Fort I advancement between 2009 and 2017. There were 32 patients with CLP (17 females; mean age 17.7 ± 1.9 years) and 33 noncleft controls (21 females; mean age 18.8 ± 2.6 years). MAIN OUTCOME MEASURES: Lower lip thickness and eversion. RESULTS: Patients with CLP and maxillary hypoplasia have a significantly thicker lower lip (P = .019) and outward rotation of the vermilion border (P = .003) compared to noncleft controls. The lower lip was significantly thicker in patients with BCLP than in those with UCLP (P = .035). Lower lip thickness and rotation did not change after maxillary advancement. CONCLUSIONS: Patients with CLP and maxillary hypoplasia have a thicker and more everted lower lip than noncleft controls. Patients with BCLP have a significantly thicker lower lip than those with UCLP. Strain of the lower lip musculature appears to be an important contributor to the development of the cleft lip lower lip deformity.

Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

OBJECTIVE: The purpose of this study was to determine whether gestational amniotic fluid level abnormalities were associated with postnatal syndromic status in a series of patients with Robin sequence (RS). DESIGN: Retrospective study of participants with RS at Boston Children's Hospital from 1967 to 2017. Participants were divided into syndromic and nonsyndromic groups. The primary predictor variable was postnatal syndromic diagnosis (yes/no). Additional predictor variables included gestational age at birth, birthweight, sex, presence of cleft palate, and other congenital anomalies. The primary outcome variable was amniotic fluid level (normal, oligohydramnios, or polyhydramnios). Descriptive statistics were computed and logistic regression was used to analyze amniotic fluid level as a predictor for syndromic diagnosis. Statistical significance was set at P < .05. RESULTS: Sixty-five (54%) syndromic and 56 (46%) nonsyndromic RS participants were included. An abnormal amniotic fluid level was seen significantly more frequently in the syndromic group (49.2% vs 25.0%; P = .001). Abnormal amniotic fluid level was associated with a 2.9-fold increased likelihood of a syndromic diagnosis (P = .007). Polyhydramnios, which was seen more frequently than oligohydramnios, predicted a 4.18 times increased likelihood of a syndromic diagnosis (P = .003). CONCLUSIONS: Abnormal amniotic fluid level, particularly polyhydramnios, is associated with an increased likelihood of a syndromic diagnosis in patients with RS.

An algorithm for predicting Robin sequence from fetal MRI.

BACKGROUND: Infants with Robin sequence (RS) may present with airway compromise at delivery. Prenatal diagnosis would improve preparation and postnatal care. The purpose of this study was to devise a predictive algorithm for RS based on fetal magnetic resonance imaging (MRI). METHODS: Retrospective case-control study including fetal MRIs from 2002 to 2017. Inclusion criteria were (1) MRI of adequate quality, (2) live-born infant, and (3) postnatal evaluation. Subjects were grouped on the basis of postnatal diagnosis: (1) RS (micrognathia, glossoptosis, airway obstruction), (2) micrognathia without airway obstruction ("micrognathia"), (3) cleft lip and palate ("CLP"), and (4) gestational age-matched controls. A series of possible predictive variables were assessed on MRI. Receiver operator curves were applied to identify cut-off values, and a multivariable algorithm was developed. RESULTS: A total of 162 subjects with mean gestational age at MRI of 25.6 ± 4.9 weeks were included: RS, n = 27 (17%); micrognathia, n = 35 (22%); CLP, n = 46 (28%); control, n = 54 (33%). Three variables were independent predictors of RS: (1) Veau I/II cleft palate (OR = 38.8), (2) tongue shape index (>80%; OR = 8.7), and (3) inferior facial angle (<48°; OR = 14.5). CONCLUSION: MRI findings of cleft palate, TSI >80% and IFA <48° indicate a 98% probability of RS, whereas a lack of all 3 features denotes a likelihood of 1%.

Micrognathia and Oropharyngeal Space in Patients With Robin Sequence: Prenatal MRI Measurements.

PURPOSE: Micrognathia is the initiating feature of Robin sequence (RS) and leads to airway obstruction. Prenatal identification of micrognathia is currently qualitative and has not correlated with postnatal findings in previous studies. Oropharyngeal airway space has not been evaluated prenatally. The purposes of this study were to 1) quantitate mandibular characteristics and oropharyngeal size at prenatal magnetic resonance imaging (MRI) and 2) identify differences in fetuses with postnatal RS compared with those with micrognathia (without RS) and normal controls. MATERIALS AND METHODS: This is a retrospective case-control study of fetuses with prenatal MRIs performed from 2002 through 2017 who were live born and evaluated postnatally for craniofacial findings. Postnatal findings were used to divide patients into 3 groups: 1) RS (micrognathia, glossoptosis, and airway obstruction), 2) micrognathia without RS ("micrognathia"), and 3) a gestational-age matched control group with normal craniofacial morphology ("control"). Inferior facial angle (IFA), jaw index, and oropharyngeal space (OPS) were calculated and compared among groups. RESULTS: Of 116 patients in this study, 27 had RS (23%), 35 had micrognathia (30%), and 54 were control subjects (47%). IFA, jaw index, and OPS were statistically significantly smaller in the RS group compared with the comparison groups (P < .0001). CONCLUSIONS: Prenatal MRI measurements of micrognathia and OPS are considerably different in patients with RS compared with other groups, including those with micrognathia alone. These measurements might serve as reliable prenatal predictors of RS.

Pathogenesis of Cleft Palate in Robin Sequence: Observations From Prenatal Magnetic Resonance Imaging.

PURPOSE: The etiology of the palatal cleft in Robin sequence (RS) is unknown. The purpose of this study was to assess the position of the fetal tongue at prenatal magnetic resonance imaging (MRI) and to suggest a potential relation between tongue position and development of the cleft palate seen in most patients with RS. MATERIALS AND METHODS: This is a retrospective case-and-control study including fetuses with prenatal MRIs performed in the authors' center from 2002 to 2017. Inclusion criteria were 1) prenatal MRI of adequate quality, 2) liveborn infant, and 3) postnatal diagnosis of RS (Robin group) or cleft lip and palate (CLP group). Patients with postnatal RS without a palatal cleft were excluded. A control group with normal facial morphology was matched by gestational age. The outcome variable was tongue position at fetal MRI, described as within the cleft, along the floor of the mouth (normal), other, or indeterminate. RESULTS: One hundred twenty-two patients with mean gestational age at MRI of 25.8 ± 4.9 weeks were included (Robin, n = 21 [17%]; CLP, n = 47 [39%]; control, n = 54 [44%]). The tongue was visualized within the palatal cleft in 76.2% of the Robin group and 4.3% of the CLP group. The tongue was found along the floor of the mouth (normal) in the remainder of the Robin and CLP groups and in 100% of the control group. CONCLUSION: These findings suggest a relation between in utero tongue position and the development of cleft palate in RS.

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.