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Journal of Advanced Pharmaceutical... Dec 2022The aim is to create awareness about Patterson syndrome among dental students. Patterson-Stevenson-Fontaine syndrome is a very rare condition marked by irregular facial...
The aim is to create awareness about Patterson syndrome among dental students. Patterson-Stevenson-Fontaine syndrome is a very rare condition marked by irregular facial bone and tissue growth (mandibulofacial dysostosis) as well as limb abnormalities. A recessed jaw (retrognathism), cleft palate, and external ear defects are all possible symptoms of this disorder. A total of 112 undergraduate dental students participated in a longitudinal cross-sectional sample. To assess college students' awareness about Patterson syndrome, a self-administered, closed-ended questionnaire was developed and distributed. The only language allowed was English. The results were analyzed in SPSS software version 23. 10.71% of females and 14.29% of males were aware about Patterson syndrome. 32.14% of females and 38.39% of males were aware that Patterson syndrome was a rare adrenal disorder. We can conclude that very few of the population which was only 25% of the dental students were aware about Patterson syndrome and this survey helped in creating awareness about this syndrome.
PubMed: 36798544
DOI: 10.4103/japtr.japtr_382_22 -
The Journal of Craniofacial SurgeryThe authors attempt to approach hemifacial microsomia with macroscopic techniques and look for a link between clinical manifestations with pathogenesis. In this study,...
The authors attempt to approach hemifacial microsomia with macroscopic techniques and look for a link between clinical manifestations with pathogenesis. In this study, for the first time mandibular medullary cavities as essential parts of the mandible were intravitally measured based on the 3-dimensional models. A total of 153 patients were included. The 3-dimensional models of patients' mandibles were reconstructed and medullary cavity volumes (mm 3 ) were measured. The ratio of medullary cavity volume to mandible volume was calculated to determine the proportion of the marrow in the bone. Statistical significance was found in mandible volumes ( P <0.001) and medullary cavity volumes ( P <0.001) on different sides. Medullary cavity volumes were significantly related to mandible volumes on both sides (both P <0.001). Medullary cavity volumes on the nonaffected and affected side were both in correlation with age but in different degrees ( r =0.214, P =0.008 versus r =0.170, P =0.036). The ratios of medullary cavity volume and the mandible were significantly different ( P <0.001) on 2 sides. The volume ratio on the nonaffected side correlated to age while this correlation did not exist on the affected side ( r =0.195, P =0.016 versus r =0.129, P =0.112). A smaller medullary cavity found on the affected side could lead to a reduced amount of bone marrow cells and consequently reduced osteogenic and hematopoietic potential. This could result in abnormal bone formation on the affected side of mandible. Proportions of marrow in bone on the affected side irrelevant to patients' ages signify a poorer potential of expansion. This may explain a higher reluctancy of growth in affected mandibular sides.
Topics: Humans; Goldenhar Syndrome; Mandible; Facial Asymmetry
PubMed: 36731104
DOI: 10.1097/SCS.0000000000008810 -
Plastic and Reconstructive Surgery May 2023Craniofacial microsomia (CFM) is characterized by several malformations related to the first and second pharyngeal arch. Patients typically present with facial...
BACKGROUND
Craniofacial microsomia (CFM) is characterized by several malformations related to the first and second pharyngeal arch. Patients typically present with facial asymmetry, but extracraniofacial organ systems might be involved, including limb anomalies. The purpose of this study was to analyze the occurrence of upper and lower limb anomalies in CFM patients. Furthermore, the relation between limb anomalies and the OMENS+ (orbital distortion; mandibular hypoplasia; ear anomaly; nerve involvement; soft-tissue deficiency; and associated extracraniofacial anomalies) classification was examined.
METHODS
A retrospective study was conducted including patients with CFM from craniofacial units in three different countries. Patients were included when clinical and/or radiographic images were available. Demographic, radiographic, and clinical information was obtained.
RESULTS
A cohort of 688 patients was available and selected for analysis. In total, 18.2% of the patients were diagnosed with at least one upper and/or lower limb anomaly. Upper and lower limb anomalies were seen in, respectively, 13.4% and 7.8% of patients. Patients with other extracraniofacial anomalies had a significantly higher risk for limb anomalies (OR, 27.98; P = 0.005). Laterality of CFM and a higher OMENS score were not associated with limb anomalies.
CONCLUSIONS
More than one in six patients with craniofacial microsomia have limb anomalies. Therefore, clinical awareness for these anomalies is warranted. Examination and, if present, follow-up on limb abnormalities in patients with CFM should be implemented in the standard assessment of CFM patients.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, III.
Topics: Humans; Goldenhar Syndrome; Retrospective Studies; Facial Asymmetry; Micrognathism; Lower Extremity
PubMed: 36729069
DOI: 10.1097/PRS.0000000000010090 -
The Journal of Clinical Investigation Feb 2023Mutations of G protein-coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding...
Mutations of G protein-coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding the endothelin receptor type A (ETAR/EDNRA) as a recurrent mutation causing mandibulofacial dysostosis with alopecia (MFDA), with craniofacial changes similar to those caused by p.Y129F. Mouse models carrying either of these missense mutations exhibited a partial maxillary-to-mandibular transformation, which was rescued by deleting the ligand endothelin 3 (ET3/EDN3). Pharmacological experiments confirmed the causative ETAR mutations as gain of function, dependent on ET3. To elucidate how an amino acid substitution far from the ligand binding site can increase ligand affinity, we used molecular dynamics (MD) simulations. E303 is located at the intracellular end of transmembrane domain 6, and its replacement by a lysine increased flexibility of this portion of the helix, thus favoring G protein binding and leading to G protein-mediated enhancement of agonist affinity. The Y129F mutation located under the ligand binding pocket reduced the sodium-water network, thereby affecting the extracellular portion of helices in favor of ET3 binding. These findings provide insight into the pathogenesis of MFDA and into allosteric mechanisms regulating GPCR function, which may provide the basis for drug design targeting GPCRs.
Topics: Animals; Mice; Humans; Mandibulofacial Dysostosis; Gain of Function Mutation; Ligands; Binding Sites; Mutation; Receptors, G-Protein-Coupled; Protein Binding; Alopecia; Allosteric Site
PubMed: 36637912
DOI: 10.1172/JCI151536 -
The Journal of Clinical Pediatric... Sep 2022To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing...
OBJECTIVE
To systematically review literature on therapeutic options for treating hemifacial microsomia (HFM), in young patients with growth potential, classifying and comparing the different dentofacial treatment methods.
STUDY DESIGN
An independent review of databases (Scopus, Embase, Ovid, Cochrane Library and PubMed) following the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA), conducted by four evaluators. The protocol of this study was registered in International prospective register of systematic reviews (PROSPERO), under the number CRD42021293076.
RESULTS
Between 1970-2021, a total number of 1137 articles were published of which 27 were included in this study according to the selection criteria: one randomized multicentric trial, two case-control studies, three case series and 21 case reports.
CONCLUSIONS
The most common orthopedic treatments provide vertical stimulation of the maxillary process in the affected side. Orthodontic approaches are mainly applied for vertical correction and stabilization of the occlusal plane. Other treatment options include orthognathic surgery, osteogenic distraction, temporomandibular reconstruction and grafting. It is recommended that prospective clinical randomized controlled studies be conducted using homogeneous pediatric groups with long-term follow-up, to establish recommended evidence-based methods for treating each set of hemifacial microsomia symptoms.
Topics: Humans; Child; Goldenhar Syndrome; Facial Asymmetry; Treatment Outcome; Retrospective Studies; Prospective Studies; Mandible; Randomized Controlled Trials as Topic
PubMed: 36624910
DOI: 10.22514/jocpd.2022.003 -
International Journal of Molecular... Dec 2022The etiology of oculo-auriculo-vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases...
The etiology of oculo-auriculo-vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases is unclear but appears genetically heterogeneous. This motivated us to report a case of OAVS with microtia, ptosis, facial microsomy, and fusion of vertebral bodies associated with a novel genetic etiology, including a deletion at 1p36.12-13. This case report expands on the genetic etiology of OAVS. Furthermore, it also expands the clinical manifestations of patients with interstitial deletions of the de 1p36.12-13 region.
Topics: Humans; Goldenhar Syndrome
PubMed: 36613479
DOI: 10.3390/ijms24010036 -
Cureus Oct 2022Treacher Collins syndrome (TCS) is a rare genetic disorder that affects craniofacial development due to malformation of the first and second branchial arches. The gene...
Treacher Collins syndrome (TCS) is a rare genetic disorder that affects craniofacial development due to malformation of the first and second branchial arches. The gene is mainly responsible for this condition. Here, we present a case of a 13-year-old adolescent girl with complaints of maligned teeth with conductive deafness. On clinical examination, she had retrognathia, a broad nose, maligned teeth, a high arch palate, and midfacial hypoplasia. On the basis of the clinical findings, a diagnosis of a mild-variant TCS was made as eyes were not involved and supportive treatment was given to the patient. The symptoms of the disease have a varying range of severity. Early diagnosis and supportive treatments, which include multidisciplinary treatment involving pediatrics, otolaryngologists, audiologists, orthodontists, and psychologists, are very important for the management of such cases.
PubMed: 36381924
DOI: 10.7759/cureus.30203 -
Scientific Reports Nov 2022This study aimed to investigate the accuracy and safety of mandibular osteotomy and distraction device positioning in distraction osteogenesis assisted by an...
Preliminary study of the accuracy and safety of robot-assisted mandibular distraction osteogenesis with electromagnetic navigation in hemifacial microsomia using rabbit models.
This study aimed to investigate the accuracy and safety of mandibular osteotomy and distraction device positioning in distraction osteogenesis assisted by an electromagnetic navigation surgical robot. Twelve New Zealand white rabbits were randomly divided into two groups after computed tomography. The control group underwent a procedure based on the preoperative three-dimensional design and clinical experience. Animals in experimental group underwent a procedure with robotic assistance after registration. The accuracies of osteotomy and distraction device positioning were analysed based on distance and angular errors. The change in ramus length after a 1 cm-extension of the distraction device was for assessing distraction effect. The preparation, operative and osteotomy times, intraoperative bleeding, and teeth injury were used for safety assessment. In the experimental group, the distance (t = 2.591, p = 0.011) and angular (t = 4.276, p = 0.002) errors of osteotomy plane, and the errors in distraction device position (t = 3.222, p = 0.009) and direction (t = 4.697, p = 0.001) were lower; the distraction effect was better (t = 4.096, p = 0.002). There was no significant difference in the osteotomy time and bleeding; however, the overall operative and preparation times were increased in the experimental group, with a reduced rate of teeth damage. Robot-assisted mandibular distraction osteogenesis with electromagnetic navigation in craniofacial microsomia is feasible, safe, significantly improves surgical precision.
Topics: Rabbits; Animals; Goldenhar Syndrome; Osteogenesis, Distraction; Robotics; Surgery, Computer-Assisted; Imaging, Three-Dimensional; Mandible; Electromagnetic Phenomena
PubMed: 36379999
DOI: 10.1038/s41598-022-21893-y -
Eating and Weight Disorders : EWD Dec 2022Goldenhar syndrome (GS) is a rare congenital condition characterized by the underdevelopment of structures deriving from the first and second branchial arches. Clinical...
BACKGROUND
Goldenhar syndrome (GS) is a rare congenital condition characterized by the underdevelopment of structures deriving from the first and second branchial arches. Clinical phenotype might encompass extra-craniofacial abnormalities, and patients may experience neuropsychiatric disorders with a higher prevalence than healthy controls. To the best of our knowledge, an association between GS and Feeding and Eating Disorders (FED) has never been reported in the literature.
CASE REPORT
A 15-year-old boy with GS was referred to our outpatient clinic due to severe underweight (BMI of 12.7 kg/m) and food intake disorder with avoidant restrictive features. After a diagnosis of avoidant-restrictive food intake disorder (ARFID) was made, an inpatient multidisciplinary intervention and outpatient follow-up program were provided, which resulted in the improvement of the boy's weight and FED psychopathology.
CONCLUSIONS
The current report describes the first case of a young male with GS and ARFID. We suggest that ARFID may present itself as part of the spectrum of neuropsychiatric disorders associated with the syndrome; since traumatic experiences and gastrointestinal discomfort play a pivotal role in the development of ARFID among children, attention should be paid to those affected by GS that involves crucial structures in the swallowing process. Further literature evidence will help portray the complex relationship between ARFID and GS more precisely.
LEVEL OF EVIDENCE
Level V, case report.
Topics: Male; Humans; Avoidant Restrictive Food Intake Disorder; Goldenhar Syndrome; Retrospective Studies; Feeding and Eating Disorders; Eating
PubMed: 36310338
DOI: 10.1007/s40519-022-01497-1 -
Genetics in Medicine : Official Journal... Jan 2023Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of...
PURPOSE
Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown.
METHODS
We performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro.
RESULTS
We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals from 3 additional kindreds with microtia-CFM spectrum phenotypes harboring damaging variants in FOXI3, a regulator of ectodermal and neural crest development. Missense variants in the nuclear localization sequence were identified in cases with isolated microtia with aural atresia and found to affect subcellular localization of FOXI3. Loss of function variants were found in patients with microtia and mandibular hypoplasia (CFM), suggesting dosage sensitivity of FOXI3.
CONCLUSION
Damaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.
Topics: Humans; Goldenhar Syndrome; Congenital Microtia; Ear; Face; Micrognathism
PubMed: 36260083
DOI: 10.1016/j.gim.2022.09.005