Craniofacial Involvement Research Articles

Rare craniofacial clefts: Surgical management protocols

BackgroundStandardization of surgical protocols is an evolving issue owing to the low incidence of rare craniofacial clefts. In this article, we aimed to share our surgical management of rare craniofacial clefts and evaluate the postoperative results. MethodsThis study was conducted from 2013 to 2022, including patients who presented with craniofacial clefts. The results were assessed based on parents’ satisfaction and objective evaluations by two independent observers. ResultsWe received a total of 3679 patients with cleft anomalies; of these, 61 patients with 89 rare craniofacial clefts were observed with a prevalence of 2.42/100. The male to female ratio was 1:1.35. Craniofacial cleft “4” and “5” were the most common, with 17 (19.1%) and 16 (17.98%), respectively. Multiple craniofacial clefts were observed in 37.7% of patients. Associated craniofacial anomalies were found in 39.34% patients. In 71.6% of patients, the parents were very satisfied with the results. Based on two independent observer scores, 70.27% of the patients scored good. ConclusionThe rare nature of craniofacial clefts and involvement of various structures make the standardization of surgical procedures very challenging. Our experience with these clefts will help new surgeons both in didactics and in technical aspects of patient management. Key Points1. We aim to share our experience with rare craniofacial clefts.2. Each cleft presents with its own unique reconstructive challenges. Literature describes many techniques for each cleft with dozen permutations. We present a simplified techniques that has worked for us over the years for all tessier clefts in this article.

A case of multisystem Langerhans cell histiocytosis with risk organ (liver) and special site (craniofacial) involvement

Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disorder of immature dendritic cells that expresses an immunophenotype positive for S100 protein, CD1a and langerin (CD207) and contains cytoplasmic Birbeck granules. We present a case of multisystem LCH with risk organ (liver) and special site (craniofacial) involvement in a 4-year-old boy who presented with hypopigmented papulopustular lesions with scales over his scalp, face and trunk, along with polydipsia, polyuria and pain in the abdomen. Histopathology reports showed diffuse infiltration of large cells with eccentric grooved coffee bean nuclei with epidermotropism and admixed with numerous eosinophils. The patient was started on desmopressin, prednisolone and chemotherapy with vinblastine. Our goal is to expand awareness regarding the entity through this report.

Osteosarcomas in retinoblastoma-survivors. A report of 28 affected patients from the Cooperative Osteosarcoma Study Group (COSS)

PurposeMany publications address the epidemiology of secondary osteosarcomas following retinoblastoma. Treatment- and outcome-related information is, however, scarce. We used a large cooperative group’s database to study this issue. Patients and methodsThe database Cooperative Osteosarcoma Study Group COSS was searched for patients with osteosarcoma following a previous retinoblastoma. Patients were then analyzed for demographic factors, local/systemic treatments received, and outcomes. Results28 eligible patients were identified. Median age at retinoblastoma was .5 years, 89% occurred bilaterally. Retinoblastoma-therapy was by surgery in 26/27, radiotherapy in 26/27, chemotherapy in 10/26 (rest unknown). Osteosarcoma was diagnosed after 13.7 (3.1 – 36.1) years, extremities and head/neck affected in 14/28, each. Four/28 patients had primary metastases. Osteosarcoma treatment included chemotherapy in all cases, local therapy surgery in 27/28. Histological response was good in 9/16 evaluable cases. Surgery of all sites was macroscopically complete in 23/27 operated tumors and microscopically complete in 17/26 (1 unknown). Radiotherapy was administered to 3 craniofacial tumors. Median follow-up was 3.5 (.4 – 30.1) years from osteosarcoma diagnosis, 8/28 patients remaining event-free. Altogether, five patients suffered further secondary malignancies. Actuarial overall and event-free survival at 2 and 5 years from osteosarcoma were 73% (standard error: 8%) / 50% (10%) and 47% (10%) / 22% (9%), respectively. ConclusionThis comparatively large cohort of osteosarcomas after retinoblastoma proves that the latter may be treated curatively. While their prognosis is far worse than that of primary osteosarcomas, partly due to a predilection for craniofacial involvement, selected patients may still become long-term survivors with appropriate therapies.

First case report of partial craniofacial duplication in a Lebanese patient and its functional implications

Craniofacial duplication, a rare congenital anomaly, presents an intricate spectrum of clinical manifestations that can profoundly impact an individual's quality of life. This case report explores the unique presentation of partial craniofacial duplication in a Lebanese patient and sheds light on the associated functional implications. Our patient presented at day of life zero with atypical craniofacial features, including duplication of nasal structures, oral structures including the tongue and the hard palate, and fontanels. Comprehensive clinical and radiological assessments were conducted to ascertain the extent of the craniofacial involvement. The diagnostic workup revealed partial duplication. The baby is still alive with no signs of respiratory distress. The functional implications extend beyond the physical presentation, highlighting the importance of a multidisciplinary healthcare approach to address the complex needs of individuals with craniofacial anomalies. This case contributes to the limited literature on craniofacial duplications and underscores the need for continued research and specialized care in managing such rare and intricate congenital conditions.

Craniofacial Microsomia: New Updates in Spinal Anomalies.

Craniofacial microsomia (CFM) involves anomalies of the first and second pharyngeal arches, mainly of the mandible, maxilla, ears, and vertebral spine. This study aimed to identify the frequency and morphology of spinal anomalies of individuals with clinical diagnoses of CFM. In addition, the correlation between spinal anomalies and craniofacial involvement was performed. This study was a retrospective review of individuals with a clinical diagnosis of craniofacial microsomia. The inclusion criteria were a clinical diagnosis of CFM with no overlap with any other syndromes of first and second pharyngeal arches and radiograph availability in the hospital's database. Prevalence and morphology of spinal anomalies were calculated and clinical details were recorded: types of spinal anomalies and correlations according to OMENS score. The sample consisted of 46 individuals with a clinical diagnosis of CFM, 24 (52,2%) female and 22 (47,8%) male (1M:1F). Twenty-one (45,7%) had unilateral craniofacial involvement and 25 (54,3%), bilateral. Twenty-eight (60,9%) individuals presented spinal anomalies. Those with unaltered spinal morphology showed a slight preference toward OMENS scores under 5: 7 patients did, only one of which had spinal alterations (14,3%); 68,8% (22) in the group with scores 5 to 9 (n=32) and 71,4% (5) in the 10 to 15 group (n=7) did as well. Spinal anomalies in individuals with CFM are more common than usually reported in medical literature, mainly when associated with radial anomalies and correlate with statistical significance to facial features, mainly the OMENS score.

Craniofacial involvement in Langerhans cell histiocytosis: A review of 44 cases at a single medical center

BackgroundCraniofacial bones are the most commonly involved site of Langerhans cell histiocytosis (LCH). The main purpose of this study was to clarify the relation between subsites of craniofacial bone and clinical presentation, treatment modalities, outcomes, and permanent consequences (PCs) in patients with LCH. MethodsForty-four patients diagnosed with LCH involving the craniofacial region presenting at a single medical center during 2001–2019 were collected and divided into four groups: single system with unifocal bone lesion (SS-LCH, UFB); single system with multifocal bone lesions (SS-LCH, MFB); multisystem without risk organ involvement (MS-LCH, RO-); and multisystem with risk organ involvement (MS-LCH, RO+). Data including demographics, clinical presentation, treatments, outcomes, and the development of PC were retrospectively reviewed. ResultsTemporal bone (66.7% versus 7.7%, p = 0.001), occipital bone (44.4% versus 7.7%, p = 0.022), and sphenoid bone (33.3% versus 3.8%, p = 0.041) involvement were more common in SS-LCH, MFB than they were in SS-LCH, UFB. No difference of reactivation rate was noted among the four groups. The most common PC is diabetes insipidus (DI), reported in 9 of the 16 (56.25%) patients with PC. The single system group was reported with the lowest incidence of DI (7.7%, p = 0.035). The reactivation rate was also higher in patients with PC (33.3% versus 4.0%, p = 0.021) or DI (62.5% versus 3.1%, p < 0.001). ConclusionAn increased risk of multifocal or multisystem lesions was associated with temporal bone, occipital bone, sphenoid bone, maxillary bone, eye, ear, and oral involvement, which may indicate poor outcomes. Longer follow-up may be indicated if there is the presence of PC or DI due to the high risk of reactivation. Therefore, multidisciplinary evaluation and treatment according to risk stratification are vital for patients diagnosed with LCH involving the craniofacial region.

HYPERTRICHOSIS ASSOCIATED WITH GENETIC CONDITIONS WITH HEAD AND NECK CHANGES

<h3>Objectives</h3> Evaluate the presence of congenital hypertrichosis associated with genetic syndromes and conditions that affect the head and neck. <h3>Study Design</h3> The search was carried out in the PubMed-NCBI databases, Online Mendelian Inheritance in Man, and Protein. The descriptor "hypertrichosis" was used with limitation to English literature. <h3>Results</h3> The analysis was performed on 63 articles. Hypertrichosis, when commonly found together with craniofacial involvement, was related to its generalized form. In the syndromes, a prevalence of autosomal dominant inheritance was seen in 48.64% of cases, autosomal recessive in 45.9%, as well as 1 X-linked recessive case and 1 due to defective mitochondrial energy generation. Forty-four were accompanied by neurodevelopmental changes. Besides the craniofacial involvement itself, there is a high prevalence of alterations of the oral structures involving the 47 teeth of all conditions. <h3>Conclusions</h3> The clinical evaluation of the maxillomandibular complex that the dentist routinely performs is extremely important to help detect genetic conditions that have craniofacial involvement. In case of suspicion, it is necessary to refer the patient to a physician for evaluation of the patient's systemic condition, consequently improving the oral clinical outcome and a better conduct.

PathologyP-36666236-301Oral and cranio-maxillo-facial mucormycosis 2020 - A consequence of Covid -19?

BackgroundA rapid rise in craniomaxillofacial Mucormycosis was seen post Covid 19 in India from August 2020 to July 2021. The aim of this study was to explore the possible causative associations observed in these Mucormycosis casesMaterial & MethodsOver 550 cases, 70 after the first Covid wave and 480 after the second Covid wave reported to our institute. Associations were looked for with demographic variables, H/o hospitalization and steroids admission during Covid infection, pre-existing medical conditions specially diabetes, H/o vaccination, extent of craniofacial involvement, surgical and medicinal therapy given, the mortality rate and recurrence.ResultsOut of 550 patients; 65% were male. The most common age group affected was 40-60 years, 77% patients reported H/O Covid, 64% patients gave H/ohospitalization, 70% patients were diabetic, 64.4% patient had received steroids,8.18% of patients had received a single dose of vaccine and average D dimer level was between 0.8 to 1.4 g/L. Only maxilla was affected in 63%, both the maxilla and zygoma in 19.63%, maxilla & orbital floor in 8%, 6.4% showed intracranial extension and 2.72% presented with mucormycosis of the mandible. Mortality rate was 5.09% and recurrence was noted in 7.6%.ConclusionMucormycosis is generally observed in immunocompromised patients, post cancer or post organ transplant therapy. However, a sudden outbreak of Mucormycosis in post Covid-19 patients, especially those who were hospitalized and received steroid therapy following which transient hyperglycemia occurred, shows a definite correlation between Mucormycosis and Covid-19.

Hypertrichosis associated with genetic conditions with head and neck alterations

INTRODUCTION: Hypertrichosis is a rare disorder in which there is an exaggerated growth of body hair in places that are not necessarily androgen-dependent, a particular feature of hirsutism. Its etiology is still questionable, with an increased incidence when associated with syndromes. This genetic association leads to numerous significant systemic and craniofacial changes, which should be recognized and considered by the dentist.OBJECTIVE: To assess, in databases, the presence of congenital hypertrichosis associated with genetic syndromes and conditions affecting the head and neck.METHODS: The search was conducted in PubMed-NCBI databases; genetic conditions along with their characteristics were available in Online Mendelian Inheritance in Man (OMIM) and in Protein®.RESULTS: The analysis was performed on 63 articles and all diseases were considered as rare. In the syndromes, prevalence of autosomal dominant inheritance was observed in 48.64%, followed by autosomal recessive in 45.9%, 1 X-linked recessive case, and 1 arising from defective mitochondrial energy generation. Among the 63 genetic conditions, 44 showed neurodevelopmental changes. Besides the craniofacial involvement itself, there is a high prevalence of alterations of the oral structures involving 47 of all conditions, including mainly dental abnormalities, palatal and gingival changes.CONCLUSION: The association of hypertrichosis with genetic components is strongly associated with major craniofacial changes. Therefore, the knowledge of the dental surgeon about the conditions that can affect the oral cavity is impressive because it is related to a correct treatment and better quality of life for the patient.

Augmented reality–assisted craniofacial reconstruction in skull base lesions — an innovative technique for single-step resection and cranioplasty in neurosurgery

Defects of the cranial vault often require cosmetic reconstruction with patient-specific implants, particularly in cases of craniofacial involvement. However, fabrication takes time and is expensive; therefore, efforts must be made to develop more rapidly available and more cost-effective alternatives. The current study investigated the feasibility of an augmented reality (AR)–assisted single-step procedure for repairing bony defects involving the facial skeleton and the skull base. In an experimental setting, nine neurosurgeons fabricated AR-assisted and conventionally shaped (“freehand”) implants from polymethylmethacrylate (PMMA) on a skull model with a craniofacial bony defect. Deviations of the surface profile in comparison with the original model were quantified by means of volumetry, and the cosmetic results were evaluated using a multicomponent scoring system, each by two blinded neurosurgeons. Handling the AR equipment proved to be quite comfortable. The median volume deviating from the surface profile of the original model was low in the AR-assisted implants (6.40 cm3) and significantly reduced in comparison with the conventionally shaped implants (13.48 cm3). The cosmetic appearance of the AR-assisted implants was rated as very good (median 25.00 out of 30 points) and significantly improved in comparison with the conventionally shaped implants (median 14.75 out of 30 points). Our experiments showed outstanding results regarding the possibilities of AR-assisted procedures for single-step reconstruction of craniofacial defects. Although patient-specific implants still represent the gold standard in esthetic aspects, AR-assisted procedures hold high potential for an immediately and widely available, cost-effective alternative providing excellent cosmetic outcomes.

The Number of Surgical Interventions and Specialists Involved in the Management of Patients with Neurofibromatosis Type I: A 25-Year Analysis.

Objective: In this study, we aim to present a single institution’s 25-year experience of employing a comprehensive multidisciplinary team-based surgical approach for treating patients with NF-1. Summary Background Data: All patients (n = 106) with a confirmed diagnosis of NF-1 who were treated using a multidisciplinary surgical treatment algorithm at Chang Gung Memorial Hospital between 1994 and 2019 were retrospectively enrolled. Patients were categorized into groups according to the anatomy involved (craniofacial and noncraniofacial groups) and the type of clinical presentation (plexiform and cutaneous neurofibromas groups) for comparative analysis. Methods: The number of surgical interventions and number of specialists involved in surgical care were assessed. Results: Most of the patients exhibited craniofacial involvement (69.8%) and a plexiform type of NF-1 (58.5%), as confirmed through histology. A total of 332 surgical interventions (3.1 ± 3.1 procedures per patient) were performed. The number of specialists involved in surgical care of the included patients was 11 (1.6 ± 0.8 specialists per patient). Most of the patients (62.3%) underwent two or more surgical interventions, and 40.6% of the patients received treatment from two or more specialists. No significant differences were observed between the craniofacial and noncraniofacial groups in terms of the average number of surgical interventions (3.3 ± 3.2 vs. 2.7 ± 2.7, respectively) and number of specialists involved (1.7 ± 0.9 vs. 1.4 ± 0.6). Patients with plexiform craniofacial involvement underwent a significantly higher average number of surgical interventions (4.3 ± 3.6 vs. 1.6 ± 1.1; p < 0.001) and received treatment by more specialists (1.9 ± 0.9 vs. 1.2 ± 0.5; p < 0.001) compared with those having cutaneous craniofacial involvement. Conclusions: In light of the potential benefits of employing the multidisciplinary team-based surgical approach demonstrated in this study, such an approach should be adopted to provide comprehensive individualized care to patients with NF-1.

Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls.

BackgroundBiallelic mutations in the non-coding RNA gene RMRP cause Cartilage-hair hypoplasia (CHH), a rare skeletal dysplasia in which the main phenotypic characteristic is severe progressive growth retardation.ObjectiveThis study compared the cranial dimensions of individuals with CHH to healthy subjects.MethodsLateral skull radiographs of 17 patients with CHH (age range 10 to 59 years) and 34 healthy individuals (age range 10 to 54 years) were analyzed for relative position of the jaws to skull base, craniofacial height and depth, as well as vertical growth pattern of the lower jaw, anterior cranial base angle, and the relationship between the cervical spine and skull base.ResultsWe found that the length of the upper and lower jaws, and clivus were significantly decreased in patients with CHH as compared to the controls. Anterior cranial base angle was large in patients with CHH. Basilar invagination was not found.ConclusionThis study found no severe craniofacial involvement of patients with CHH, except for the short jaws. Unexpectedly, mandibular deficiency did not lead to skeletal class II malocclusion.Clinical ImpactAlthough the jaws were shorter in patients with CHH, they were proportional to each other. A short posterior cranial base was not associated with craniocervical junction pathology.

Fibrous dysplasia patients with and without craniofacial involvement report reduced quality of life inclusive of stigma, depression, and anxiety.

Fibrous dysplasia is a rare bone disorder that causes deformity, fractures, and pain that typically manifests in childhood and persists as a chronic illness. This study evaluates adult patients with fibrous dysplasia and McCune Albright syndrome to determine whether their quality of life differs from the general population and varies in relation to disease severity and lesion location. This study uses data from the online self-report Fibrous Dysplasia Foundation Patient Registry and operationalizes quality of life using PRO measures: SF-36, Hospital Anxiety and Depression scale, Neuro-Quality of Life Stigma scale, and the Brief Pain Inventory. One hundred and ninety seven adults, 90% white, 84% women, constitute the sample. Mean scores for all SF-36 domains and the Neuro Q stigma scale were significantly below population benchmarks. A large minority registered moderate to severe levels of anxiety and depression. Group differences were not significant across most of the SF-36 domains but were associated with experienced stigma. This study demonstrates a social psychological impact of fibrous dysplasia on adults, in those with and without craniofacial involvement and with mild and severe forms of the disease. Clinical treatment should encompass assessment of quality of life issues and ensure access to psychosocial treatment resources for all fibrous dysplasia/McCune-Albright syndrome patients.

Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.

To analyze the genetic and clinical features of children with MAP2K1-mutated Langerhans cell histiocytosis (LCH). We compared the clinical features of 37 children with MAP2K1-mutated LCH with those of the BRAFV600E mutation group (n = 133) and no known mutation group (n = 59) in the same period. We found 13 mutations of the MAP2K1 gene, which were mainly concentrated at p.53-62 and p.98-103. The most common mutation site was c.172_186del (12/37). Compared with the BRAFV600E mutation group, the patients with MAP2K1 mutations were mainly characterized by single-system multiple bone involvement (P = 0.022), with later disease onset (P = 0.029) as well as less involvement of risk organs, especially liver (P = 0.024). There was no significant difference in clinical features compared with the no known mutation group. The 2-year progression-free survival rate of first-line treatment (ChiCTR1900025783, 07/09/2019) in MAP2K1-mutated patients was 65.6% ± 9.5%. The prognosis of patients with lung involvement was poor [HR (95% CI) = 6.312 (1.769-22.526), P = 0.005]. More progression or relapses could be found in patients with bony thorax involvement (8/17 vs. 2/20, P = 0.023), yet involvements in other sites of bones, such as craniofacial bone involvement (8/26 vs. 2/11, P = 0.688) and limb bone involvement (5/12 vs. 5/25, P = 0.240), were not correlated to disease progression or relapse. The children with MAP2K1-mutated LCH have specific clinical features requiring clinical stratification and precise treatment. MAP2K1-mutated patients with lung involvement (especially with bony thorax involvement) had poor prognosis.

Monostotic fibrous dysplasia in a 10-year-old patient

Fibrous dysplasia is a rare congenital bone disorder which manifests as a localized defect in osteoblastic differentiation and maturation with the replacement of normal bone with an abnormal scar-like fibrous connective tissue. It can be classified into monostotic and polyostotic variety with the former seen mostly in the adults and the latter common in children. Craniofacial involvement in case of fibrous dysplasia is very common, affecting maxilla more commonly than the mandible. This report, however, describes a case of fibrous dysplasia in a 10-year-old female patient who presented with a swelling of the left mandible.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect. Chromosomal microarray analysis identified pathogenic CNVs in 2/19 (10.5%) individuals, and CNVs classified as variants of uncertain significance in 7/19 (36.9%) individuals. Remarkably, two subjects had small intragenic CNVs involving DACH1 and DACH2, two paralogs coding for key components of the PAX-SIX-EYA-DACH network, a transcriptional regulatory pathway controlling developmental processes relevant to OAVS and causally associated with syndromes characterized by craniofacial involvement. Moreover, a third patient showed a large duplication encompassing DMBX1/OTX3, encoding a transcriptional repressor of OTX2, another transcription factor functionally connected to the DACH-EYA-PAX network. Among the other relevant CNVs, a deletion encompassing HSD17B6, a gene connected with the retinoic acid signaling pathway, whose dysregulation has been implicated in craniofacial malformations, was also identified. Our findings suggest that CNVs affecting gene dosage likely contribute to the genetic heterogeneity of OAVS, and implicate the PAX-SIX-EYA-DACH network as novel pathway involved in the etiology of this developmental trait.

The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development.

Epigenetic and chromatin regulation of craniofacial development remains poorly understood. Ankyrin Repeat Domain 11 (ANKRD11) is a chromatin regulator that has previously been shown to control neural stem cell fates via modulation of histone acetylation. ANKRD11 gene variants, or microdeletions of the 16q24.3 chromosomal region encompassing the ANKRD11 gene, cause KBG syndrome, a rare autosomal dominant congenital disorder with variable neurodevelopmental and craniofacial involvement. Craniofacial abnormalities include a distinct facial gestalt, delayed bone age, tooth abnormalities, delayed fontanelle closure, and frequently cleft or submucosal palate. Despite this, the dramatic phenotype and precise role of ANKRD11 in embryonic craniofacial development remain unexplored. Quantitative analysis of 3D images of KBG syndromic subjects shows an overall reduction in the size of the middle and lower face. Here, we report that mice with heterozygous deletion of Ankrd11 in neural crest cells (Ankrd11nchet) display a mild midfacial hypoplasia including reduced midfacial width and a persistent open fontanelle, both of which mirror KBG syndrome patient facial phenotypes. Mice with a homozygous Ankrd11 deletion in neural crest cells (Ankrd11ncko) die at birth. They show increased severity of several clinical manifestations described for KBG syndrome, such as cleft palate, retrognathia, midfacial hypoplasia, and reduced calvarial growth. At E14.5, Ankrd11 expression in the craniofacial complex is closely associated with developing bony structures, while expression at birth is markedly decreased. Conditional deletion of Ankrd11 leads to a reduction in ossification of midfacial bones, with several ossification centers failing to expand and/or fuse. Intramembranous bones show features of delayed maturation, with bone remodeling severely curtailed at birth. Palatal shelves remain hypoplastic at all developmental stages, with a local reduction in proliferation at E13.5. Our study identifies Ankrd11 as a critical regulator of intramembranous ossification and palate development and suggests that Ankrd11nchet and Ankrd11ncko mice may serve as pre-clinical models for KBG syndrome in humans.

Stigma and psychological distress among pediatric participants in the FD/MAS Alliance Patient Registry

BackgroundStigma, both enacted and internalized, is part of the illness experience of many chronic conditions / diseases and has been found to increase psychological distress, lower self-esteem, and impact social engagement lowering quality of life (QOL). Stigma among pediatric patients is of particular concern due to its potential impact on identity formation. Using patient data from the online FD/MAS Alliance Patient Registry (FDMASAPR), this study seeks to 1) determine levels of enacted and self-stigma in a pediatric population of fibrous dysplasia (FD) / McCune Albright syndrome (MAS) patients and 2) to explore the relationship between stigma and anxiety and depression.MethodsThis is a cross sectional analysis of deidentified self-report data from 18 pediatric patients. Key analytic variables include the Neuro-QOL stigma short form, the Hospital Anxiety and Depression Scale (HADS), diagnostic category and craniofacial involvement, and select demographics. Sample means and score distributions are examined. Bivariate relationships between stigma, anxiety and depression and patient’s personal and medical characteristics are established through analysis of variance and correlation.ResultsComposite stigma levels for FD/MAS pediatric patients were comparable to those of children with multiple sclerosis, epilepsy, and muscular dystrophy. Self-stigma was more frequently reported than enacted/felt stigma, but few patients indicated complete freedom from either type of stigma. Diagnosis was significantly related to self-stigma. Significant bivariate relationships were found between depression and enacted/felt and self-stigma and between anxiety and self-stigma.ConclusionsThis study establishes the illness experience of pediatric patients with FD / MAS is impacted by stigma and suggests they should be regularly screened for stigma and psychological distress. It supports the integration of clinical psychologists/ therapists in regular patient care, referral of families to advocacy organizations, and indicates that rare disease patient registries can be a useful tool in efforts to improve the QOL of patients.

Pediatric obstructive sleep apnea-Dental professionals can play a crucial role.

The significant contribution of dental professionals to the management of selected adult obstructive sleep apnea (OSA) cases is understood. Among children, it has also been suggested that dental professionals may also help screen and manage this morbidity in selected cases. It has also been noted that our understanding of pediatric OSA lags significantly behind adult OSA. During the screening process for potential pediatric OSA cases, dental professionals may be quite helpful as specific craniofacial abnormalities have been previously associated with pediatric OSA, including Class II malocclusion, vertical facial growth and maxillary transversal deficiency. As dental professionals assess children more frequently than physicians, they can help screen sleep-disordered breathing signs and symptoms using validated questionnaires. In more advanced cases, orthodontists may be leading contributors to the management of selected cases where a craniofacial involvement is suspected. Rapid maxillary expansion and mandibular or maxillary anterior repositioning devices have been proposed as managing alternatives. So far, there is no substantial evidence if these approaches can be adopted to treat OSA fully or if the reported OSA signs and symptoms improvements observed in a selected group of patients are stable long-term. Nevertheless, dentists and orthodontists' integration into a transdisciplinary team should be encouraged to play a significant role. This review discusses dentists or orthodontists' potential contribution to screen and manage selective pediatric OSA patients as part of a transdisciplinary team.

McCUNE-ALBRIGHT SYNDROME ASSOCIATED WITH ACROMEGALY: A CASE OF FACIAL DISFIGURATION

McCune-Albright syndrome is characterized by the triad of fibrous dysplasia, cafe-au-lait spots, and hyperfunctioning endocrinopathies. About 20% of the patients affected by the syndrome have acromegaly. A 36-year-old male patient with McCune-Albright syndrome and acromegaly described a complaint of severe headache and body pain when he was diagnosed with a syndrome by an endocrinologist. He was referred to treatment by maxillofacial surgery with craniofacial involvement associated with fibrous dysplasia, amaurosis in the right eye due to pathologic occlusion of the optic canal, severe facial disfiguration, dental diastemas, and alveolar borders of altered contours. Image exams revealed polyostotic fibrous dysplasia and pituitary adenoma. The patient underwent osteoplasties on the face with the aid of virtual planning. After the surgeries, he had significant improvement of the masticatory function and aesthetics with a balance of the proportions of a third of the face and a better social life.