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To date, there have been no reports of patients showing a Tessier number 7 cleft with unilateral complete cleft lip and palate. Furthermore, no studies have established the sequence, plan, or timing of surgical methods for treating patients presenting the above anomalies simultaneously. We report a case of a Tessier number 7 cleft with unilateral complete cleft lip and palate. Two months after birth, lip adhesion was performed on the unilateral complete cleft lip and total excision was performed on the skin tag. At 4 months of age, Tessier number 7 cleft was corrected. At 6 months of age, surgery involving two small triangular flaps was performed on the unilateral incomplete cleft lip after performing lip adhesion. At 13 months of age, two-flap palatoplasty with a vomer flap was performed on the complete cleft palate. At 6 years of age, open rhinoplasty was performed on the unilateral cleft lip nose deformity. At 9 years of age, bone grafting was performed for the alveolar cleft. At follow-up appointments up to 13 years of age, there were no major complications. Here, we present this patient, surgical procedures and timelines, and show our results demonstrating good postoperative outcomes.

Background: Congenital bifid tongue without other craniofacial abnormalities is a very rare malformation. Here, we discuss a case of the bifid tongue with cleft palate, reported in a 7-month-old girl with no other syndromes or craniofacial abnormalities. Case Reports: This case report described a 7-month-old girl with an anterior bifid tongue, separated medially by a soft, solitary sublingual mass measuring 3 cm x 2 cm in size. There was also an associated incomplete cleft palate. A soft solitary mass measuring 2 cm x 2 cm in size was also seen within the cleft palate. Results: Computed facial tomography (CT) revealed a midline hard palate defect with an intact alveolar process of the maxilla. Pedunculated cystic lesion suspected with epulis was noted to arise on premaxillary alveolar mucosa. Excision of the tongue and hard palate mass and repair of the bifid tongue were done. Summary: Congenital bifid tongue with a cleft is a very rare malformation with different variations. Early surgical intervention is critical to prevent speech impairment and swallowing disorders. A multidisciplinary approach, including well-planned staged operations and rehabilitation, is important to achieve favorable outcomes.

Amniotic bands sequence is a inherited diseases distinguished by craniofacial, body wall, and limb oddities that may be in relation with foetal-placental fibrous bands. Its pervasiveness has been delineated to range from 0.19 to 8.1 per 10 000 births [1]. It is a customary state prospectively alike with a variety of different confinements’ disability. The deformities arise in the wake of the pompous bodily part have formed usually in early evolution. The required cause of amniotic disruption complex is undisclosed .The three most usual decorative design are constriction ring syndrome signalized by one or more limbs being high-flown; the limb-body- wall complex; and amniotic band syndrome characterized by abnormalities of the head and face (craniofacial abnormalities), inadequacies of the brain and genuine deformation of the appendages [2]. The condition in few cases might be considered prior to nativity (antepartum), unlikely to change upon the sequels of explicit detailed imaging practices, like fetal USG, which may give away the feature inadequacies [3]. Here we present a case of pregnant woman admitted in our Obstetrics and gynecological department with her ultrasonography report indicative of amniotic band and further discussed about antenatal diagnosis, diagnostic and therapeutic approach, prognosis and genetic counselling of amniotic disruption complex.

Purpose Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants. Methods We present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. We generated gdf11 mutant zebrafish to model loss of gdf11 phenotypes and used an overexpression screen in Drosophila to test variant functionality. Results Patients with variants in GDF11 presented with craniofacial (5/6) , vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6) and connective tissue abnormalities (3/6). gdf11 mutant zebrafish show craniofacial abnormalities and body segmentation defects that match some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) alleles whereas the missense variants in our cohort are partial LOF variants. Conclusion GDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues.

To investigate the incidence of persistent, open metopic sutures in contemporary Australians aged 24 months and older. Metopic suture evaluation was conducted on retrospective cranial/cervical computed tomography scans of patients aged 24 to 252 months who presented to the Women’s and Children’s Hospital in Adelaide, Australia, between 2010 and 2020. Suture ossification was graded according to Lottering scoring system based on 4 stages, on three-dimensional volume-rendered reconstructions (stage 1: fibrous tissue interface, stage 2: commenced fusion, stage 3: complete fusion and stage 4: obliterated suture). The complete persistent sutures were classified as stage 1. Partially closed sutures were classified into stages 2 and 3, while completely closed sutures were defined as stage 4. One thousand thirty-four patients (61.2% male and 38.8% female) were included, with a mean age at scan of 66 months. More than half of patients were subject to scanning due to closed-head injuries. The incidence of persistent (completely open) metopic suture was 4.8% (2.3% in males and 2.5% in females). In comparison, a partially closed metopic suture was found in 6.3% of the study cohort, with the remaining sutures located along the metopic suture line, at the glabella, mid-part of the suture, bregma and glabella-bregma areas. The prevalence of persistent metopic sutures in our study of the Australian population is 4.8%, and it is equally distributed between the genders. The pattern of suture closure can commence from any location along the suture line, which is in contrast to the existing literature.

International audience; The highlighting of the role of craniofacial abnormalities in the development of obstructive sleep apnea syndrome has led to the development of different surgical procedures. Static craniofacial measures and dynamic airway collapse patterns are helpful to target surgical treatment. Maxillomandibular advancement (MMA) is the most effective surgical treatment in adults with selected criteria.

Objectives Analysis of TMJ asymmetry in a sample of asymptomatic skeletal class I patients. Patients and methods This study was performed on one hundred patients requesting CBCT scans. All patients were skeletal class I pattern. They were all free of TMD symptoms, midline deviation of teeth, open bite, cross bite, congenital craniofacial abnormalities or any systemic diseases which may affect joint morphology such as rheumatoid arthritis. TMJ was evaluated through linear and volumetric analysis. Qualitative condyle position was also evaluated. All measures were compared on the right and left sides. Results There was relative asymmetry between right and left sides regarding all measured parameters. Condyle height showed the highest asymmetry, while condyle AP dimension was the least. There was absolute asymmetry between right and left sides regarding all measured parameters. fossa roof thickness showed the highest asymmetry, while condyle ML width was the least. On Correlating the R and L measurements, all correlations were positive with medium strength and were statistically highly significant. The highest correlation was shown in condyle volume while fossa roof thickness showed the least. The distributions of cases according to condyle position were almost statistically significantly different between right and left sides with 49 % percentage of agreement. Conclusion TMJ shows relative and absolute asymmetry in skeletal class I asymptomatic patients.

Introduction Craniosynostosis is one of the most common craniofacial abnormalities. It involves premature closure of one or more cranial sutures. Mutations in many genes have been and continue to be identified in patients. Settings and sample population Whole blood samples were collected from the patient and family members. Material and methods Whole exome sequencing was performed to identify potential mutations in the patient. The results were verified by Sanger sequencing by comparing SPECC1L gene sequence of blood samples from 100 unrelated population-matched controls. Results The patient presented with craniosynostosis with fusion of the bicoronal and sagittal sutures. A novel missense mutation (c.2612C>T, p.Pro871Leu) in the SPECC1L gene was identified. Gene analysis showed a missense mutation in exon1 of SPECC1L that led to an amino acid substitution in the region between coiled-coil domain 3 and calponin homology domain. Conclusion Our observations expand the molecular spectrum of gene mutations in craniosynostosis and emphasize the importance of gene testing in the diagnosis of craniosynostosis. The observations also reinforce the characteristics of SPECC1L-related cranial disorders.

There is a wide spectrum of syndromes that affect the dental, oral, and craniofacial abnormalities. The primary aim of this review is to provide basic knowledge regarding syndromes, promote mutual understanding and interaction among all the medical and dental specialties involved in the early diagnosis and therapeutic guidance of patients presenting with these syndrome, in order to improve their quality of life.

Temporomandibular joint (TMJ) reconstruction with alloplastic prosthesis is a commonly performed procedure, which can be used as a treatment for improving pathologic conditions affecting the TMJ. Depending of the severity of the condition, the patient's ability to eat can be impaired, which in turn can affect their quality of life. Several syndromes can affect the patient's facial features, and some of those also affect TMJ's. Use of alloplastic prosthesis in TMJ's affecting syndromes, by means of correcting TMJ conditions and mandibular deformities, is still rather uncommon. Purpose of our study is to review the use TMJ total prosthesis as a treatment modality for correcting TMJ conditions and the reconstruction of mandibular deformities in congenital syndromes affecting the facial features. This study consists of a retrospective cohort of patients treated with TMJ reconstruction with alloplastic prosthesis at the Helsinki University Hospital during the past decade. All subjects with congenital syndrome who underwent TMJ reconstruction were included the study. The cohort consisted of seven patients and ten joints treated. Temporomandibular joints affecting syndromes were Goldenhar syndrome, hemifacial macrosomia, Nager syndrome, and Treacher-Collins syndrome. The majority of the patients have had several previous operative treatments on the facial skeleton during their childhood, which in turn probably affected and compromised the TMJ surgery outcome. Mouth opening was sufficiently achieved as average maximal opening was 34 mm (range 24-42 mm) postoperatively. Temporomandibular joint reconstruction with alloplastic prosthesis can offer new tools and approaches for treatment of facial deformities in syndromes with craniofacial abnormalities. Impaired jaw functions and asymmetry can be addressed with the use of alloplastic prostheses, achieving sufficient mouth opening and restoring the symmetry of the lower facial skeleton.

Dynamic articular disc abnormality (wR, with reduction; woR, without reduction) is well known as the risk factor for temporomandibular joint osteoarthritis (TMJOA). However, there are few speculations on the potential risk of positional disc abnormalities for TMJOA. The purpose of this study was to investigate the relative risk of positional abnormality and dynamic abnormality of the temporomandibular disc for OA after the three-dimensional interpretation of all the sagittal and coronal planes of magnetic resonance (MR) data in a large dataset of consecutive subjects. Experimental samples consisted of images of 1356 TMJs of patients. A diagnosis of disc state was established in each TMJ utilising a 1.5T MR imaging scanner. A binary logistic regression analysis was performed to identify the significant associations between the outcome (dependent variable: the presence of OA) and the predictors (covariates: age, sex, dynamic disc state [the presence of woR], and 5 categories of the positional disc state [NA, no abnormality; SW, sideways; pADD, partial anterior; cADD, complete anterior; PDD, posterior]). Based on the result of the binary logistic regression analysis, the presence of woR showed an odds ratio of 14.1 (P < .05). In addition, compared with the joints NA, those with SW and cADD showed odds ratios of 5.62 and 10.88, respectively (P < .05). Despite the limitations of the study, in the positional disc abnormalities, sideways disc displacement and complete anterior disc displacement could be associated with the occurrence of TMJOA. All the coronal and sagittal MR images should be evaluated to assess intra-articular joint disorders accurately.

Trio is a unique member of the Rho-GEF family that has three catalytic domains and is vital for various cellular processes in both physiological and developmental settings. TRIO mutations in humans are involved in craniofacial abnormalities, in which patients present with mandibular retrusion. However, little is known about the molecular mechanisms of Trio in neural crest cell (NCC)-derived craniofacial development, and there is still a lack of direct evidence to assign a functional role to Trio in NCC-induced craniofacial abnormalities. Methods: In vivo, we used zebrafish and NCC-specific knockout mouse models to investigate the phenotype and dynamics of NCC development in Trio morphants. In vitro, iTRAQ, GST pull-down assays, and proximity ligation assay (PLA) were used to explore the role of Trio and its potential downstream mediators in NCC migration and differentiation. Results: In zebrafish and mouse models, disruption of Trio elicited a migration deficit and impaired the differentiation of NCC derivatives, leading to craniofacial growth deficiency and mandibular retrusion. Moreover, Trio positively regulated Myh9 expression and directly interacted with Myh9 to coregulate downstream cellular signaling in NCCs. We further demonstrated that disruption of Trio or Myh9 inhibited Rac1 and Cdc42 activity, specifically affecting the nuclear export of β-catenin and NCC polarization. Remarkably, craniofacial abnormalities caused by trio deficiency in zebrafish could be partially rescued by the injection of mRNA encoding myh9, ca-Rac1, or ca-Cdc42. Conclusions: Here, we identified that Trio, interacting mostly with Myh9, acts as a key regulator of NCC migration and differentiation during craniofacial development. Our results indicate that trio morphant zebrafish and Wnt1-cre;Triofl/fl mice offer potential model systems to facilitate the study of the pathogenic mechanisms of Trio mutations causing craniofacial abnormalities.

This study aimed to quantify mandibular ramus height and condylar distances asymmetry indexes in adult patients with different vertical facial growth pattern using Cone Beam computed tomography (CBCT). An observational cross-sectional study was conducted by using CBCT of 159 patients (mean age 26.36 ± 5.32 years). Vistadent 3D® software was used to determine the facial pattern in 3 groups (N = 53): hypodivergent, normodivergent and hyperdivergent—by Ricketts VERT index. Mandibular ramus height and the condylar linear distance in relation to the median sagittal plane were evaluated. The asymmetry index was calculated considering the right and left sides. Data were analyzed by generalized linear models and Tukey post-hoc test (α = 0.05). Significantly lower values were found for the left and right mandibular ramus height in the hyperdivergent skeletal pattern (P 0.05). Asymmetry indexes (mandibular ramus height and condylar distance) were similar, and no statistically significant differences were found among the skeletal patterns. In most subjects, the severity of mandibular ramus height asymmetry varied from light to not clinically significant independently of the facial type. The findings suggest that vertical facial growth pattern not affected the asymmetry index of mandibular ramus height and the intercondylar distance. The results also demonstrated significantly shorter mandibular ramus height for the hyperdivergent skeletal pattern individuals.

Apert syndrome is characterized by craniosynostosis, mid-facial hypoplasia, and symmetric syndactyly. Prenatal diagnosis is challenging until the skull and facial anomalies become more pronounced during the third trimester. We present a case in which typical sonographic signs of Apert syndrome were observed after 23 weeks of gestation. Following termination of the pregnancy, both clinical features such as craniofacial abnormalities and syndactyly and cranial 3D-CT images showed high correlation with the previous sonographic findings. Furthermore, genetic analysis revealed a spontaneous mutation, c.755C≥G (p.S252W), in the FGFR2 gene, with this mutation implicated in the etiology of Apert syndrome.

BACKGROUND AND PURPOSE: Facial parameters are used for evaluating normal growth patterns, diagnosing patients with craniofacial abnormalities, and planning surgical procedures. However, these parameters vary by ethnicity and race. This study aims to describe soft-tissue and bony facial parameters based on CT of healthy pediatric and adolescent patients in Thailand. MATERIALS AND METHODS: CT imaging of the brain, orbit, facial bones, and neck was performed at Maharaj Nakorn Chiangmai Hospital, in patients from birth to 19 years old. Patients with known syndromic disease, craniofacial syndrome, facial trauma and/or infection, and previous surgery that deformed the study area were excluded. The key points of measurement were soft-tissue intercanthal, bony interorbital, and bony lateral orbital distances. RESULTS: There were 932 patients: 554 males (59.4%) and 378 females (40.6%). Facial parameters rapidly increased in the first 2 years of life. Significant differences in these parameters between the males and females were found at the age of ≥15 years. However, ratios of the interorbital to the lateral orbital distance were generally consistent among age groups in both sexes, at 0.25. CONCLUSIONS: This study, in Thailand, provides detailed age- and sex-specific normative data of the craniofacial measurements in children and adolescences based on CT imaging. These data can be used for evaluating individual patients with craniofacial abnormalities as well as determining the treatment in Thai and Asian populations, in whom craniofacial abnormalities, for example, frontoethmoidal encephalomeningocele, are common.

Cleidocranial dysplasia is a rare disorder of skeletal development that mainly promotes, among other malformations, inadequate development of clavicles and failure in cranial closure. In this affection, the role of neurosurgery in addressing cranial defects is rarely discussed. We conducted an extensive review of the literature using the PubMed database, giving a greater focus to publications in the field of neurosurgery. Additionally, we report a case of a 2-year-old female child with cleidocranial dysplasia. In our review, we encountered several cases of orthodontic implications but a few cases on cranial defect approach. The articles present literature that is unanimous on the recommendation of expectant conduct in children since the cranial block can occur spontaneously, even if the delayed form. In our approach, we opted for an expected strategy concerning the cranial defect, using a helmet made for brain protection. We also made the referral for multidisciplinary monitoring of pediatrics, neuropediatrics, ophthalmology, dentistry, and orthopedics.

Infants with craniofacial malformations (CFMs) are at increased risk of various clinical problems, including respiratory and feeding disorders, the result of which may be long-lasting. An improvement in clinical care can be achieved by prenatal diagnosis and interdisciplinary birth preparation. Feeding problems may particularly be stressful for the family and require a team approach involving nursing staff, speech therapists and nutritional specialists to anticipate, avoid and treat sequelae such as failure to thrive or recurrent aspirations. Special techniques (eg, optimisation of breast feeding, alternative feeding methods or manual orofacial therapy) may be used individually to improve feeding competence; supplemental nutrition via a nasogastric or gastrostomy tube may be temporarily necessary to ensure adequate weight gain. The high prevalence of respiratory disorders in infants with craniofacial abnormalities requires anticipation and screening to prevent growth failure and neurological deficits. Treatment of upper airway obstruction varies widely, strategies can be divided into non-surgical and surgical, and in those aimed at widening the pharyngeal space (eg, prone position, palatal plates, craniofacial surgery) and those bridging the narrow upper airway (eg, nasopharyngeal airway, modified palatal plate, pneumatic airway stenting, tracheostomy). The complex management of an infant with CFM should be performed by a multidisciplinary team to offer specialised support and care for affected families.

The mission of the Society for Craniofacial Genetics and Developmental Biology (SCGDB) is to promote education, research, and communication about normal and abnormal development of the tissues and organs of the head. The SCGDB welcomes as members undergraduate students, graduate students, post doctoral researchers, clinicians, orthodontists, scientists, and academicians who share an interest in craniofacial biology. Each year our members come together to share their novel findings, build upon, and challenge current knowledge of craniofacial biology. © 2016 Wiley Periodicals, Inc.

Craniofacial microsomia (CFM) is the second most common congenital craniofacial malformation characterized by asymmetric malformation of the ear and mandible. Numerous studies have reported the importance of child perspective and psychosocial issues in patients with craniofacial abnormalities. However, clinical tools to evaluate child and caregiver perspectives in patients with microtia with or without CFM have been limited or not reported in the literature. The authors aimed to (1) To develop a tool for measuring patient and caregiver evaluation of facial appearance as it relates to microtia and craniofacial microsomia (CFM). (2) To utilize this tool in comparing children, between 7 and 20 years of age, and caregiver perspectives towards facial appearance in patients with microtia with or without craniofacial microsomia (CFM). A prospective single center study conducted from 2016 to 2017 using newly developed 13-item (Microtia) and 27-item (CFM) 5-point Likert scale Likert scale questionnaires given to patients with CFM and caregivers at a craniofacial center. Aged 7 to 20 (N = 25) and their caregivers. A total of 25 patients (13 male, 12 female; mean age at time of survey 13.2 ± 3.7) met criteria for the study. The Likert scale developed and presented in this study may be a useful tool for clinical use in investigating patient and caregiver perspectives for planning surgical timeline. Based on our pilot data it is important to incorporate all voices into decision-making on timing.

Background Inactivating mutations in the gene for cartilage-associated protein (CRTAP) cause osteogenesis imperfecta type VII in humans, with a phenotype that can include craniofacial defects. Dental and craniofacial manifestations have not been a focus of case reports to date. We analyzed the craniofacial and dental phenotype of Crtap-/- mice by skull measurements, micro-computed tomography (micro-CT), histology, and immunohistochemistry. Results Crtap-/- mice exhibited a brachycephalic skull shape with fusion of the nasofrontal suture and facial bones, resulting in mid-face retrusion and a class III dental malocclusion. Loss of CRTAP also resulted in decreased dentin volume and decreased cellular cementum volume, though acellular cementum thickness was increased. Periodontal dysfunction was revealed by decreased alveolar bone volume and mineral density, increased periodontal ligament (PDL) space, ectopic calcification within the PDL, bone-tooth ankylosis, altered immunostaining of extracellular matrix proteins in bone and PDL, increased pSMAD5, and more numerous osteoclasts on alveolar bone surfaces. Conclusions Crtap-/- mice serve as a useful model of the dental and craniofacial abnormalities seen in individuals with osteogenesis imperfecta type VII.

INTRODUCTION Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. AIM To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. MATERIALS AND METHODS The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. RESULTS The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). CONCLUSION A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of genes important to bone biology in general, and particularly for identifying components unique to intramembranous ossification, which cannot be captured at other skeletal sites. We assessed genetic determinants of SK-BMD in 43,800 individuals, identifying 59 genome-wide significant loci (4 novel), explaining 12.5% of its variance. Pathway and enrichment analyses of the association signals resulted in clustering within gene-sets involved in regulating the development of the skeleton; overexpressed in the musculoskeletal system; and enriched in enhancer and transcribed regions in osteoblasts. From the four novel loci (mapping to ZIC1, PRKAR1A, ATP6V1C1, GLRX3), two (ZIC1 and PRKAR1A) have previously been related to craniofacial developmental defects. Functional validation of skull development in zebrafish revealed abnormal cranial bone initiation that culminated in ectopic sutures and reduced BMD in mutated zic1 and atp6v1c1 fish and asymmetric bone growth and elevated BMD in mutated prkar1a fish. We confirmed a role of ZIC1 loss-of-function in suture patterning and discovered ATP6V1C1 gene associated with suture development. In light of the evidence presented suggesting that SK-BMD is genetically related to craniofacial abnormalities, our study opens new avenues to the understanding of the pathophysiology of craniofacial defects and towards the effective pharmacological treatment of bone diseases.

In this case report, we focus on Muenke syndrome (MS), a disease caused by the p.Pro250Arg variant in fibroblast growth factor receptor 3 (FGFR3) and characterized by uni- or bilateral coronal suture synostosis, macrocephaly without craniosynostosis, dysmorphic craniofacial features, and dental malocclusion. The clinical findings of MS are further complicated by variable expression of phenotypic traits and incomplete penetrance. As such, unraveling the mechanisms behind MS will require a comprehensive and systematic way of phenotyping patients to precisely identify the impact of the mutation variant on craniofacial development. To establish this framework, we quantitatively delineated the craniofacial phenotype of an individual with MS and compared this to his unaffected parents using three-dimensional cephalometric analysis of cone beam computed tomography scans and geometric morphometric analysis, in addition to an extensive clinical evaluation. Secondly, given the utility of human induced pluripotent stem cells (hiPSCs) as a patient-specific investigative tool, we also generated the first hiPSCs derived from a family trio, the proband and his unaffected parents as controls, with detailed characterization of all cell lines. This report provides a starting point for evaluating the mechanistic underpinning of the craniofacial development in MS with the goal of linking specific clinical manifestations to molecular insights gained from hiPSC-based disease modeling.

Unilateral oral macrostomia can present in isolation or conjunction with other craniofacial abnormalities. Common associations include cartilaginous tags and accessory tragi, while the facial nerve is rarely involved. Our work is the first of its kind to report depressor anguli oris paralysis in the setting of oral macrostomia. The authors present 2 cases of unilateral oral macrostomia, with and without contralateral pre-operative depressor anguli oris paralysis, to highlight this often overlooked finding. Furthermore, these cases illustrate the impact of depressor anguli oris paralysis on postoperative outcomes and patient expectations. Depressor anguli oris function can be detected preoperatively and therefore should be weaved into surgical decision-making and used to manage expectations for symmetric facial animation following repair. Further work is required to evaluate the long-term benefits of electromyography and botulinum toxin injections as diagnostic and therapeutic modalities for DAO paralysis.

OBJECTIVE: The aim of this study was to evaluate craniofacial asymmetry in children with transverse maxillary deficiency, with or without functional unilateral posterior crossbite (UPC), before and after rapid maxillary expansion (RME). SETTING AND SAMPLE POPULATION: A sample of 51 children with cone beam computed tomography scans obtained before RME (T1) and a year after RME (T2). MATERIAL AND METHODS: This prospective study consisted of 2 groups: 25 children with functional UPC (6.77 ± 1.5 years) and 26 children without UPC (7.41 ± 1.31 years). Linear and angular measurements were obtained from zygomatic, maxilla, glenoid fossa and mandible, using original and mirrored 3D overlapped models. All right and left side comparisons in both groups and intergroups asymmetries were compared using MANOVA and t test for independent samples, respectively, statistically significant at P < .05. RESULTS: The UPC group showed no side differences, but mandibular horizontal rotation at T1, and this asymmetry was improved in T2. The non-UPC group showed at baseline significant lateral asymmetry in orbitale, position of palatine foramen, respectively, in average 2.95 mm and 1.16 mm, and 0.49 mm of average asymmetry in condylar height. The glenoid fossa was symmetric in both groups at T1 and T2. CONCLUSIONS: Children with transverse maxillary deficiency showed slight morphological asymmetry, located in the mandible position in cases of UPC, and in the orbital and maxillary regions in cases without UPC. One year after RME, patients improved their craniofacial asymmetry, with significant changes in the mandible and correction of the mandibular rotation in patients who presented UPC.

The coexistence of craniofacial cleft and bilateral choanal atresia has only been reported in three cases in the literature, and only one of those cases involved a Tessier number 3 facial cleft. It is also rare for bilateral choanal atresia to be found in adulthood, with 10 previous cases reported in the literature. This report presents the case of a 19-year-old woman with a Tessier number 3 facial cleft who was diagnosed with bilateral choanal atresia in adulthood. At first, the diagnosis of bilateral choanal atresia was missed and septoplasty was performed. After septoplasty, the patient’s symptoms did not improve, and an endoscopic examination revealed previously unnoticed bilateral choanal atresia. Computed tomography showed left membranous atresia and right bony atresia. The patient underwent an operation for opening and widening of the left choana with an image-guided navigation system (IGNS), which enabled accurate localization of the lesion while ensuring patient safety. Postoperatively, the patient became able to engage in nasal breathing and reported that it was easier for her to breathe, and there were no signs of restenosis at a 26-month follow-up. The patient was successfully treated with an IGNS.

Craniofacial osteosarcoma is rare (2–10% of all osteosarcomas). Most low grade fibroblastic osteosarcomas of the long bones are characterized by amplification of chromosome12q including MDM2 and CDK4 genes. This study aims to investigate the utility of MDM2 and CDK4 immunostains as well as MDM2 FISH in craniofacial osteosarcomas as a means of distinguishing them from benign fibro-osseous lesions. Cases of primary osteosarcoma and benign fibro-osseous lesions of the craniofacial bones were identified in the diagnostic pathology archives. MDM2 (SMP14 and/or IF2) and CDK4 (D9G3E and/or DCS-31) immunostains were performed on a representative block from each osteosarcoma and benign case. Fluorescence in situ hybridization (FISH) for MDM2 was performed on non-decalcified osteosarcomas. In osteosarcomas, the rate of expression of either MDM2 IF2, MDM2 SMP14, CDK4 DCS-31, or CDK4 D9G3E was 72.7% (8/11 cases), usually focal and weak. Using the MDM2 IF2 clone and the CDK4 DCS-31 clone, MDM2 and CDK4 were negative in lesional cells in all 14 benign fibro-osseous lesions. Using the IF2 and SMP14 clones, MDM2 nuclear expression was present in associated osteoclast-like giant cells in both benign and malignant cases. Of 4 successful cases, 1 high grade osteosarcoma was positive for MDM2 amplification. MDM2 or CDK4 expression or MDM2 amplification may aid in a diagnosis of head and neck osteosarcoma. However, when absent, sarcoma is not excluded. Due to focal weak expression of MDM2 in tumor cells in conjunction with nuclear expression in associated giant cells, caution should be exercised when interpreting positive stains.

Aim and objective The aim and objective of this report is to describe the dental management of 11-year-old patient with type III osteogenesis imperfecta (OI). Background Osteogenesis imperfecta or brittle bone disease is caused by mutations in the collegen type I gene which is a heterogeneous rare connective tissue disorder. Dentinogenesis imperfecta, hearing impairment, scoliosis, sclera is blue, hyperlaxity of ligaments, and fragile skin are other common features. Individuals having positive family history suggest a straightforward diagnosis of OI but can be difficult in the absence of affected family. Case description We report a case of 11-year-old boy, with a chief complaint of pain and swelling on the lower left back tooth region which was associated with extraoral draining sinus. His medical history revealed multiple fractures sustained during routine handling. On examination, the child was pale, dyspneic, with rhizomelic dwarfism, and relative macrocephaly with frontal bossing. On the grounds of history taken, clinical examination and respective investigations carried out, we came to a conclusion of osteogenesis imperfect type III. As the child needs a special care, we planned for a conservative treatment approach. Conclusion The craniofacial abnormalities in OI-III affected person's impact on their dentofacial appearance and masticatory function. A detailed dental and craniofacial investigation is necessary in affected persons in order to identify any primary or secondary abnormalities. As soon as the deciduous teeth erupt, patients with OI should be evaluated with adequate dental treatment and oral hygiene instructions in order to reduce the need for extensive treatment. Clinical significance Although oral manifestations are seldom seen, dentist should be extremely alert while managing this fragile bone disease. Early diagnosis, increased awareness, and effective treatment plan will reduce the effects of this debilitating disease. An ounce of prevention is worth a pound of cure, especially when something has no cure. How to cite this article Krishnamurthy NH, Chikkanarasaiah N, Nanjappa A, et al. Fragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report. Int J Clin Pediatr Dent 2020;13(4):425-428.

Nonsyndromic craniosynostosis results in premature fusion of cranial sutures and is rarely found in the context of other craniofacial abnormalities. Here the authors present the case of a 3-month-old male infant with a rare presentation of sagittal craniosynostosis and concomitant calcified cephalohematoma repaired by endoscopic-assisted sagittal strip craniectomy with good cosmetic and functional outcomes. The authors discuss the advantages of endoscopic repair of craniosynostosis when found in the presence of a cephalohematoma and the need for further research to investigate a possible causal relationship between these 2 pathologies.

Cleft lip and/or palate is the commonest congenital craniofacial abnormality affecting approximately 1 in 700 newborns each year. It comprises of a heterogenous group of disorders affecting facial growth and cosmesis, that are associated with increased risk of airway obstruction, sleep disordered breathing (SDB), glue ear and chronic ear disease, feeding difficulties, and failure to thrive (FTT). Cleft palate (CP) can be accompanied by an abnormally undersized jaw, known as micrognathia; although micrognathia can also be found in isolation. The craniofacial abnormalities found in these children can lead to a reduction in airway size due to the tongue falling backwards. The risk of airway obstruction ranges from intermittent airway collapse during sleep (obstructive sleep apnoea, OSA) to potentially life-threatening airway compromise necessitating intubation or a tracheostomy. This paper sets out to describe the pathophysiology of airway compromise in these children, recognising clinical symptoms and appropriate referral strategy, as well as a broad range of management options.

Introduction: The frontal sinus is funnel-shaped cavity separated by septum. The frontal sinus is unique to individual and often thought as a more symptomatic sinus because of the difficulties encountered in treatment of frontal rhino sinusitis. It requires the clinician to have precise knowledge of nasal sinus anatomy in the surgical treatment of sinusitis in recent years, particularly in endonasal endoscopic surgery. Materials and Methods: 100 patients (72 males and 28 females) undergoing coronal and axial sections of computed tomography scan of frontal sinus of head and neck aged between 1year to 90 years at the radiology department, Vydehi institute of medical science & research centre, Bangalore for reasons other than due to craniofacial abnormalities or sinus problem were taken for the study. Volume and dimensions of the frontal sinuses with its anatomical variations were obtained. Mean, SD, significant difference between age & gender was calculated. Results: Mean value of all the parameters of frontal sinus of both right & left were more in males compared to females. Compared between sides, all the parameters of both sides in males were more in right sinus than left side, in females right depth & volume were more on right side & height & width were more on left side. There is a significant difference in height of right frontal sinus, width & volume of left frontal sinus between male & female. The maximum height was observed in the age group in males on right side was in 51-60 yrs & on left side was 71-80yrs, in females on right & left side was 61-70 yrs. The Maximum width, depth & volume of sinus in males & females on right & left side were in age group 51-60 yrs. There is a significant difference both side in males & females and in right & left sinus in depth was in age group 11-20 yrs & on right side in 21-30 yrs age group. Conclusion: These results will be helpful in understanding normal and pathological conditions of the frontal sinuses & useful in clinic

Introduction Teratomas of the head and neck region are rare lesions, representing just 5% of all congenital teratomas. Usually found in the pineal region orneurohypophysis, teratomas are uncommonly located in the posterior occiput. Case presentation Herein, we present a case of a female neonate born at 37-week gestation with hydrocephalus, an occipital scalp lesion, and several craniofacial abnormalities consistent with a diagnosis of coloboma, heart defect, atresia choanae, retarded growth, genital abnormality, and ear abnormality (CHARGE) syndrome. The occipital scalp lesion was initially thought to be an encephalocele. On day of life 3, the neonate was taken to the operating room for placement of a ventriculoperitoneal shunt and repair of the occipital lesion. Intra-operatively, the lesion resembled a dural-based meningocele; however, during histologic evaluation, it was found to contain tissue derived from all three germ layers and thus, it was determined to be more consistent with a teratoma. Conclusion We hypothesize that a germline mutation in CHD7 or other similar regulatory gene causative of CHARGE syndrome and craniofacial developmental abnormalities may have contributed to the unusual location of the teratoma in this case.

Axenfeld–Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present a case of a 10-year-old boy. Its awareness among oral surgeons is essential for timely diagnosis and subsequent prevention of ophthalmic and systemic complications as craniofacial and dental features constitute the early recognizable symptoms of this syndrome. Systematic ophthalmic surgeries aid in relieving vision abnormalities, while symptomatic dental treatment should be provided for masticatory and esthetic rehabilitation.

Sagittal craniosynostosis (SCS), the most common type of premature perinatal cranial suture fusion, results in abnormal head shape that requires extensive surgery to correct. It is important to find objective and repeatable measures of severity and surgical outcome to examine the effect of timing and technique on different SCS surgeries. The purpose of this study was to develop statistical models of infant (0–6 months old) skull growth in both normative and SCS subjects (prior to surgery). Our goal was to apply these models to the assessment of differences between these two groups in overall post‐natal growth patterns and sutural growth rates as a first step to develop methods for predictive models of surgical outcome. We identified 81 patients with isolated, non‐syndromic SCS from Seattle Children's Craniofacial Center patient database who had a preoperative CT exam before the age of 6 months. As a control group, we identified 117 CT exams without any craniofacial abnormalities or bone fractures in the same age group. We first created population‐level templates from the CT images of the SCS and normal groups. All CT images from both groups, as well as the canonical templates of both cohorts, were annotated with anatomical landmarks, which were used in a growth model that predicted the locations of these landmarks at a given age based on each population. Using the template images and the landmark positions predicted by the growth models, we created 3D meshes for each week of age up to 6 months for both populations. To analyze the growth patterns at the suture sites, we annotated both templates with additional semi‐landmarks equally spaced along the metopic, coronal, sagittal and lambdoidal cranial sutures. By transferring these semi‐landmarks to meshes produced from the growth model, we measured the displacement of the bone borders and suture closure rates. We found that the growth at the metopic and coronal sutures were more rapid in the SCS cohort than in the normal cohort. The antero‐posterior displacement of the semi‐landmarks also indicated a more rapid growth in the sagittal plane in the SCS model than in the normal model. Statistical templates and geometric morphometrics are promising tools for understanding the growth patterns in normal and synostotic populations and to produce objective and reproducible measurements of severity and outcome. Our study is the first of its kind to quantify the bone growth for the first 6 months of life in both normal and sagittal synostosis patients.

Background: Greig cephalopolysyndactyly syndrome (GCPS) is a disorder of autopod and craniofacial abnormalities. Autopod anomalies include preaxial and/or postaxial polydactyly together with or without syndactyly while craniofacial features include hypertelorism and macrocephaly. GCPS is inherited in an autosomal dominant manner and is caused by sequence variants in GLI3. Methodology and Results: In this study, we examined four unrelated families with GCPS segregating in an autosomal dominant manner. Sanger sequencing revealed three novel (p.Tyr146Leufs*19, p.Glu99Serfs*60, and p.Thr541Arg) and one previously reported non-sense variant (p.Arg792*) in GLI3. Conclusion: The study expands the spectrum of the variants in the GLI3 gene linked to GCPS, and should also facilitate genetic counseling of GCPS patients in the Pakistani population.

Cleidocranial dysplasia is a rare autosomal-dominant condition that affects ossification. The main symptoms of this cleidocranial dysplasia patient include craniofacial abnormalities, hypoplasia of clavicles, narrow thorax, retarded exfoliation of deciduous teeth, retarded eruption of permanent teeth, and multiple impacted supernumerary teeth. The aim of this treatment was to correct the craniofacial abnormalities and provide an adequate functional reconstruction of the occlusion. The patient was treated with a multidisciplinary therapeutic protocol including removal of supernumerary teeth, surgical exposure of impacted teeth, orthodontic, and orthognathic surgery. After 6 years' follow-up, the treatment objectives of acceptable occlusion, normal function, and acceptable profile were achieved.

Purpose Craniofacial anthropometry is a valuable tool for characterization of facial dysmorphology and evaluation of treatment outcomes. Databases of normal anthropometric ranges are limited for infants. The aim of this study is to establish normative data for craniofacial anthropometric measurements in Caucasian infants. Methods This is a prospective cross-sectional study including Caucasian infants (≤12 months old) that were recruited from a pediatric medicine practice and Boston Children's Hospital. Infants with craniofacial deformities, trauma or operations were excluded. The sample was stratified by age (in months) into 4 groups: 0 to 3, 3.1 to 6, 6.1 to 9, and 9.1 to 12. Three dimensional (3D) photographs were obtained for all subjects. Forty-five standard anthropometric points were plotted, and 37 measurements were made on the 3D photographs. Two evaluators independently performed all measurements. One examiner repeated the measurements on 25% of the subjects. Intraclass correlation coefficients (ICC) were calculated to assess inter-rater and intra-rater agreement. Results Thirty-three subjects were enrolled in the study. The mean age for the entire sample was 6.3 ± 3.0 months, and 17 subjects (52%) were female. The mean ages (months) for each group were: 1.9 ± 0.7 for group 1 (n = 6); 4.4 ± 0.7 for group 2 (n = 8); 7.5 ± 1.1 for group 3 (n = 11); and 9.9 ± 1.0 for group 4 (n = 8). Descriptive statistics are presented for each group. Inter- and intra-rater agreements were acceptable (ICC >0.6) for 21 anthropometric measurements. Conclusions This study generated normative craniofacial anthropometric measurements for Caucasian infants. These data can be used in the interpretation of measurements for research studies evaluating craniofacial anomalies in this population.