Facial Syndromes Research Articles

Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts.

Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment practices. To overcome this scarcity, European experts from ERN CRANIO collaborated to develop a clinical consensus statement through the Delphi consensus method. A systematic search of Embase, MEDLINE/PubMed, Cochrane, and Web of Science databases was conducted until February 2023. The quality of evidence was evaluated using various tools depending on the study design. Statements were subsequently formed based on literature and expert opinion, followed by a Delphi process with expert health care providers and patient representatives. In total, 92 experts from various specialties and three patient representatives were involved in the Delphi process. Over 3 voting rounds, consensus was achieved on 92 (46.9%), 58 (59.2%), and 19 (70.4%) statements, respectively. These statements cover the topics of general care; craniofacial reconstruction; the eyes and lacrimal system; upper airway management; genetics; hearing; speech; growth, feeding, and swallowing; dental treatment and orthodontics; extracranial anomalies; and psychology and cognition. The current clinical consensus statement provides valuable insights into optimal diagnostic and treatment practices and identifies key research opportunities for FDS. This consensus statement represents a significant advancement in FDS care, underlining the commitment of health care professionals to improve the understanding and management of these rare syndromes in Europe.

Agenesia of salivary glands: incidental findings in multidetector computerized tomography.

Agenesis of the salivary glands is an extremely uncommon finding, and in the majority of cases, it is associated with facial syndromes or malformations. Reports in the literature have, however, indicated that agenesis of the major salivary glands can occur in isolation, and this anomaly is believed to occur due to a failure in the developmental process. Herein, we present two cases of isolated unilateral agenesis of major salivary glands.

Assessment of airway dimensions in skeletal Class I malocclusion patients with various vertical facial patterns: A cephalometric study in a sample of the Saudi population.

OBJECTIVE:To compare airway widths among skeletal Class I malocclusion patients with different vertical facial patterns.MATERIAL AND METHODS:A total of 103 lateral cephalograms of skeletal Class I patients (mean age of 20 ± 2.3 years) with no history of orthodontic treatment, trauma, facial syndromes, or nasopharyngeal dysfunction were included. Based on the Frankfort–mandibular plane angle measurements, the sample was divided into three groups: low-angle, high-angle, and normal-angle groups. Upper and lower pharyngeal airway widths were measured as described by McNamara. The analysis of variance test was performed to compare the means of groups. Pairwise comparisons were performed using Tukey's post-hoc test. Differences were considered statistically significant at P < 0.05.RESULTS:ANOVA showed a significant mean difference between the groups for both the upper and lower airway widths with P values of 0.011 and 0.003, respectively. Tukey Pairwise comparisons showed the upper airway width to be significantly narrower in the high-angle group compared to the normal-angle (P = 0.021) and low-angle groups (P = 0.013). Furthermore, the lower airway width in the high angle group was significantly narrower than the normal angle (P = 0.020) and low-angle groups (P = 0.017). There were no statistically significant differences between normal and low angle groups.CONCLUSIONS:The upper and lower pharyngeal widths in the Class I high-angle group were significantly narrower than those in the normal-angle and low-angle groups.

Raro comportamiento de linfoma B de celulas gigantes en el seno cavernoso. Descripción del síndrome canalículo-cavernoso

Es escasa la literatura que asocie el síndrome del seno cavernoso, con los síndromes de mentón entumecido y de parálisis facial periférica. El linfoma no Hodgkin es una rara posibilidad, que podría explicarse por la diseminación neural desde el Cavum. El objetivo de este reporte de caso es presentar la relación de estos síndromes con la diseminación neural del linfoma no Hodgkin.

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses. We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings. Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients with BTK (P= .003) and activation-induced cytidine deaminase (P=.009) mutations. Paralysis following live polio vaccination was considerably higher in patients with μ heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P= .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P=.008). This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment.

Bilateral taste disorders in patients with Ramsay Hunt syndrome and Bell palsy.

Ramsay Hunt syndrome (RHS) and Bell palsy (BP) are typically known as facial nerve motor syndromes and are primarily unilateral. The aim of this study was to challenge this assertion, because both conditions are also known to be associated with viruses that typically affect several nerves. Ten participants with RHS, 12 with BP, all clinically unilateral, and 12 healthy controls were prospectively enrolled. Electrogustometric thresholds were measured bilaterally in the areas of the chorda tympani, the glossopharyngeal, and the major petrosal nerve. Also bilaterally, the taste function was tested using chemogustometry with different tastant concentrations. Again bilaterally, the morphology of the mucosa and the vessels of the anterior fungiform papillae were examined by contact endoscopy. Statistically, RHS and BP participants were compared with the healthy controls, and the paretic sides of RHS and BP were compared pairwise with their mobile sides. Electrogustometrically, perception was reduced bilaterally in RHS (10-19dB, p < 0.001) and BP (3-5dB, p = 0.011-0.030) in all 3 innervation areas. Chemogustometrically, it was also reduced bilaterally in RHS (20-70%) and BP (8-50%). Papillary atrophies were increased 100% in RHS (p = 0.001) and BP (p < 0.001). They were more increased on the paretic side in RHS (30%, p = 0.078) and BP (83%, p < 0.001). In these 2 clinically unilateral conditions, the gustatory perception and morphology are bilaterally affected, more in RHS and more on the paretic side. BP, known as an isolated motor condition, appears to be a cranial polyneuritis. A bilateral examination and therapeutic gustatory monitoring might follow these observations in evidence-based practice. Ann Neurol 2018;83:807-815.

Brainstem and facial nerve compression syndromes due to vertebrobasilar dolichoectasia: A case report and literature review

Abstract Background Vertebrobasilar dolichoectasia (VBD) is a rare vasculopathy which is characterized by arterial elongation, dilation, and tortuosity. Current data regarding VBD are very limited. We present a case of VBD with brainstem compression syndrome and facial nerve palsy. Case presentation A 62-year-old Chinese male initially presented with left peripheral facial paralysis, left facial hypoesthesia around the mouth. A clinical diagnosis of vertebrobasilar dolichoectasia was made based on MRI and CTA, which showed an elongated and tortuous left vertebral artery. These symptoms partially improved following corticosteroids therapy, multivitamins and symptomatic supportive treatments. Conclusion Vertebrobasilar dolichoectasia is a very rare cause of brainstem and facial nerve compression, there is no effective treatment of the clinical symptoms. The pathogenesis and therapy of VBD needs further investigation.

Oral–facial–digital syndrome type 1: a review

The oral–facial–digital syndromes result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. The oral–facial–digital syndrome type I is discussed in detail with emphasis on clinical features, molecular genetics and diagnosis.Bangladesh Journal of Medical Science Vol.14(2) 2015 p.130-134

The temporal evolution of a facial pain syndrome associated with neurovascular contact: a case report

BackgroundTrigeminal autonomic cephalalgias are primary headaches characterized by unilateral pain and cranial autonomic symptoms. However, associated autonomic symptoms have also been reported in other headaches and facial pains, e.g. trigeminal neuralgia, with the clinical differentiation proving a complex task.CaseA 54-year-old man presented with right-sided, sharp, intense facial pain in the distribution area of the trigeminal nerve. Pain duration was from seconds to a few minutes, and trigger factors included ipsilateral touching of the skin and hair. Over the next ten years, symptoms progressed and changed presentation, also displaying as right-sided, severe, orbital pain, lasting 60 to 90 minutes, with conjunctival injection and rhinorrhea. Neurological examination was normal. Numerous medications were tried with limited or no effect. In 2010, magnetic resonance imaging revealed a right-sided deviation of the basilar artery at the level of pons, creating neurovascular contact with the trigeminal nerve. Microvascular decompression was performed, and symptoms resolved within days.ConclusionDifferentiating between trigeminal autonomic cephalalgias and trigeminal neuralgia with autonomic symptoms can be challenging. The distinct change and evolution over time in the clinical presentation of the patient’s head pain suggests a temporal plasticity of the pain in head and facial syndromes, irrespective of underlying pathoanatomic features.

Considerations to Planning Orthognathic Surgery in Different Regions of Saudi and the Middle East

<b>Objectives:</b> to properly plan orthongathic surgery and the fine beauty details in it, understanding different ethnic facial norms is necessary. In Saudi, investigating the existence of any facial variation has not been studied before, and hence we are investigating the existence of any variation of soft tissue profile (STP) among Saudi patients in the Southern region (SSA) when compared to the middle region of Saudi (MSA) that require considerations when planning facial surgeries. <b>Material and methods:</b> A retrospective chart review from August 2010 to June 2012 of Patients with class I skeletal relation, no history of orthognathic facial deformity, syndromes nor cleft lip and palate were included in the study. 93 patients with an age ranged from 15-33 years old were compared to a similar group in the MSA. Clinical pictures and lateral cephalometric radiographs superimpositions were used to examine the data and tabulate the results. <b>Results:</b> it has been shown that although similarities exist between the STP of patients in the SSA and MSA, some characters were found significantly different in SSA group such as females showing more microgenic tendency, more acute nasolabial angle and larger interlabial gap than MSA females. While SSA males on as well showed more microgenia and longer face tendency than MSA males. <b>Conclusion: </b>When planning orthognathic surgery for SSA patients, careful consideration for lower facial third character is necessary as tendency toward microgenia in the patient population sounds like a common feature in males and females.

Fetal orbital and ocular biometry at different gestational ages

IntroductionDetermination of orbital and ocular growth patterns in fetal life is necessary for early diagnosis of facial malformation syndromes. We aim to establish the normative data for growth of different ocular and orbital parameters. These parameters may also correlate with fetal anthropometry. MethodsFifty normal fetuses at different gestational ages were studied for anthropometric, orbital and ocular growth. The parameters measured included weight, height, biparietal diameter, depth and width of the orbit, interorbital distance, transverse and vertical corneal diameters, axial and transverse diameters of the eyeball and diameter of the lens. Normative values were determined for orbital and ocular parameters in fetuses of 11–36 gestational weeks. ResultsThe orbital and the ocular parameters demonstrated significant positive correlation with age and biparietal diameter. However, the lens diameter did not show any significant correlation with either age or biparietal diameter. Among orbital parameters interorbital distance showed maximum correlation with biparietal diameter. The correlations of orbital and ocular parameters were better defined in males. ConclusionsThe gestational age specific normative data generated in this study may provide reference for comparing the growth of various orbital and ocular parameters and may aid in early diagnosis of fetal maldevelopment syndromes.

HEAR MAPS a classification for congenital microtia/atresia based on the evaluation of 742 patients

ObjectiveDescribe anatomical and radiological findings in 742 patients evaluated for congenital aural atresia and microtia by a multidisciplinary team.Develop a new classification method to enhance multidisciplinary communication regarding patients with congenital aural atresia and microtia. MethodsRetrospective chart review with descriptive analysis of findings arising from the evaluation of patients with congenital atresia and microtia between January 2008 and January 2012 at a multidisciplinary tertiary referral center. ResultsWe developed a classification method based on the acronym HEAR MAPS (Hearing, Ear [microtia], Atresia grade, Remnant earlobe, Mandible development, Asymmetry of soft tissue, Paralysis of the facial nerve and Syndromes). We used this method to evaluate 742 consecutive congenital atresia and microtia patients between 2008 and January of 2012. Grade 3 microtia was the most common external ear malformation (76%). Pre-operative Jahrsdoerfer scale was 9 (19%), 8 (39%), 7 (19%), and 6 or less (22%). Twenty three percent of patients had varying degrees of hypoplasia of the mandible. Less than 10% of patients had an identified associated syndrome. ConclusionPatients with congenital aural atresia and microtia often require the intervention of audiology, otology, plastic surgery, craniofacial surgery and speech and language professionals to achieve optimal functional and esthetic reconstruction. Good communication between these disciplines is essential for coordination of care. We describe our use of a new classification method that efficiently describes the physical and radiologic findings in microtia/atresia patients to improve communication amongst care providers.

Pattern of craniofacial anomalies seen in a tertiary care hospital in Saudi Arabia.

BACKGROUND AND OBJECTIVE:To date, there are no published studies from Saudi Arabia on the incidence or etiology of craniofacial anomalies. This study aimed to report the patterns of craniofacial anomalies in Saudi Arabia.DESIGN AND SETTING:Hospital-based, descriptive study conducted during 2002 to 2009 in the Cleft Lip/Palate and Craniofacial Anomalies Registry at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.PATIENTS AND METHODS:Data was collected on craniofacial patients in the registry.RESULTS:Of the 447 craniofacial patients (male, 242; female, 205), 109 (24.4%) had only cranial anomalies, 261 (58.4%) had only facial anomalies and 77 (17.2%) had both of these conditions. Craniosynostosis was seen in 33.3% of the total patients (81 males and 68 females). Of the 65 craniosynostosis syndromic patients, 25 (38.5%) had Apert syndrome and 18 (27.7%) had Crouzon syndrome. Among facial anomalies, 47 (19.4%) had dysmorphic features, followed by 35 (14.5%) with micrognathia. Among facial syndromes, 72 (59.0%) were observed to have Pierre-Robin sequence, 17 (13.9%) had Goldenhar syndrome and another 17 (13.9%) had Van der Woude syndrome. Cleft palate was more common in 171 (56.8%) patients as an associated deformity, followed by cleft lip with cleft palate in 99 (32.9%) and cleft lip in 23 (7.6%) patients. Of the 224 patients having other congenital anomalies, the cardiovascular system was most commonly affected, with 46 (20.5%) children diagnosed with congenital heart disease. A family history of anomalies was observed more in children born to parents of a consanguineous marriage than in those whose parents were unrelated (P=.01).CONCLUSIONS:Additional efforts should be made towards creating awareness among the general population about these deformities in relation to consanguinity.

Maxilla–nasion–mandible angle: a new method to assess profile anomalies in pregnancy

To collect normative data and test the feasibility and reproducibility of measurement of the maxilla-nasion-mandible (MNM) angle between 16 and 36 weeks' gestation and its diagnostic ability in a group of pathological cases. The MNM angle is defined as the angle between the intersection of the maxilla-nasion and mandible-nasion lines in the exact mid-sagittal plane. After assessing reproducibility, the MNM angle was measured in 3D volumes in 241 fetuses cross-sectionally and in 11 fetuses longitudinally. The MNM angle was then tested in 18 pathological cases with facial malformations or syndromes with specific facial features. The MNM angle could be measured in 92.3% of normal fetuses. Intra- and interobserver intraclass correlation coefficient (ICC) variability was 0.92 and 0.81, respectively. The difference between paired measurements performed by one or two observers was less than 2.5° and 3.6°, respectively in 95% of the cases. The mean MNM angle was 13.5° and did not change significantly during pregnancy (r = - 0.08, P = 0.25). The MNM angle was above the 95(th) centile in all cases of retrognathia and maxillary alveolar ridge interruption. The MNM angle was below the 5(th) centile in Apert syndrome, thanatophoric dysplasia and in two of the three Down syndrome cases. The feasibility and reproducibility of measurement of the MNM angle is good. The MNM angle can be used to evaluate the convexity of the fetal profile by enabling an objective assessment of the anteroposterior relationship of the jaws and it may therefore be of help in the diagnosis of retrognathia, maxillary alveolar ridge interruption and flat profile.

Regulation of facial morphogenesis by endothelin signaling: insights from mice and fish.

Craniofacial morphogenesis is accomplished through a complex set of developmental events, most of which are initiated in neural crest cells within the pharyngeal arches. Local patterning cues from the surrounding environment induce gene expression within neural crest cells, leading to formation of a diverse set of skeletal elements. Endothelin-1 (Edn1) is one of the primary signals that establishes the identity of neural crest cells within the mandibular portion of the first pharyngeal arch. Signaling through its cognate receptor, the endothelin-A receptor, is critical for patterning the ventral/distal portion of the arch (lower jaw) and also participates with Hox genes in patterning more posterior arches. Edn1/Ednra signaling is highly conserved between mouse and zebrafish, and genetic analyses in these two species have provided complementary insights into the patterning cues responsible for establishing the craniofacial complex as well as the genetic basis of facial birth defect syndromes.

Idiopathic Ophthalmodynia and Idiopathic Rhinalgia: Two Topographic Facial Pain Syndromes

To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

Treatment of facial lipodystrophy syndromes. Lipofilling versus free flap surgery

Treatment of facial lipodystrophy syndromes. Lipofilling versus free flap surgery

Treatment of facial lipodystrophy syndromes. Lipofilling versus free flap surgery

Treatment of facial lipodystrophy syndromes. Lipofilling versus free flap surgery

232 USE OF NASAL CANNULA COMPARED TO THERMISTOR IN CHILDREN WITH FACIAL SYNDROMES AND RELEVANCE OF END-TIDAL PCO2 EXPIRED

232 USE OF NASAL CANNULA COMPARED TO THERMISTOR IN CHILDREN WITH FACIAL SYNDROMES AND RELEVANCE OF END-TIDAL PCO2 EXPIRED

Treatment of facial lipodystrophy syndromes. Lipofilling versus free flap surgery

Facial lipodystrophies are characterized by a progressive atrophy of the subcutaneous fat of the face. The aim of our study, which includes two types of facial lipodystrophy (Barraquer–Simons (BS) and Parry–Romberg (PR) syndromes), was to compare the results of treatment with lipofilling and with free flaps and to evaluate the long-term outcome. Eighteen patients (seven cases of BS and 11 cases of PR), issued from four different plastic surgery departments, underwent surgery from 1986 to 2004. The average follow-up period was 5.25 years. Of seven patients who had free flap surgery, four presented satisfying results and three bad results. Dissatisfaction in this group was mainly due to ptosis and a partial atrophy of the flaps. Three good and nine excellent results were seen in patients treated with lipofilling. The results in this group were technique-related, with the nine patients treated with lipostructure (Coleman’s technique) presenting the best outcome. Lipofilling, as an alternative of free flaps, seems to offer superior results. This technique is simple, not expensive, and minor compared to free tissue transfer. It allows the treatment of two areas in one-stage procedure without leaving scars. Lipostructure fills all the conditions to become the technique of choice in the treatment of facial lipodystrophies.