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Journal of Obstetrics and Gynaecology... Aug 2022Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and...
INTRODUCTION
Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful.
CASE REPORT
Our patient a primigravida with 19 weeks 6 days gestation was referred for micrognathia and polyhydramnios. On ultrasound examination, she had unilateral mild ventriculomegaly and posterior fossa cyst in the fetal brain. The fetus had agnathia and anophthalmia. There was an echogenic intracardiac focus and echogenic bowel. The stomach was not seen clearly. This could be due to agnathia and microstomia leading to swallowing difficulties. The patient was explained about the guarded prognosis. The pregnancy was terminated. A diagnosis of otocephaly was made.
DISCUSSION
Otocephaly is a rare disorder of development of the first branchial arch. The reported incidence is 1 in 70,000. It is mostly lethal due to respiratory difficulties and may be associated with cranial and extracranial malformations. Most case reports have found that it is sporadic and could be due to mutations in the PRRX1 gene. Other anomalies that may be associated with otocephaly are neural tube defects, cephalocele, dysgenesis of corpus callosum, atresia of the third ventricle, midline probocis, hypotelorism, renal ectopia, cyclopia, vertebral and rib abnormalities, tracheo esophageal fistula, cardiac anomalies and adrenal hypoplasia. Most of the cases reported so far were diagnosed in the second or the third trimester. Facial anomaly screening has undergone a huge evolution in the recent years. In addition to the usual facial screening, we recommend mandibular arch screening in the first and early second trimester. If there is a doubt the patient may be called back at 15 to 16 weeks of gestation considering the fact that these anomalies are usually lethal and medical termination is safer earlier in pregnancy than later. MRI may be a handy tool to confirm antenatal diagnosis as it can detect the abnormal ears. Agnathia and polyhydramnios occur together in the third trimester but in the first or second trimester polyhydramnios may not be observed.
CONCLUSION
Otocephaly, though rare, poses a clinical challenge for both patient and the reporting doctor. Considering the time limitation for termination of pregnancy in our country, early prenatal diagnosis is important. A detailed face evaluation in the first trimester can help detect this defect as early as 11-14 weeks. Early diagnosis of lethal anomalies helps in completing the fetal work up and offering a safer termination. Correct diagnosis and work up of fetal anomalies allows for documentation and awareness of the presence of these conditions in our population.
PubMed: 35923505
DOI: 10.1007/s13224-021-01494-x -
BioMed Research International 2022Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal... (Review)
Review
Epidermolysis bullosa (EB) is a group of skin disorders with skin fragility characterized by blistering from minimal mechanical trauma with rupture at the dermoepidermal junction. There are four major classical heritable EB types, due to mutations in as many as 20 distinct genes: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB). This study is aimed at reporting case series on patients ( = 8; males, = 5 and females, = 3, age range 12-68 years) affected by EB and performs a review of the literature on this topic. This group of disorders can affect oral soft and hard tissues in various ways, resulting in various effects including enamel hypoplasia, dental caries, microstomia, ankyloglossia, oral blistering, and ulcerations early-onset periodontal disease. From the sample results, it can be concluded that the clinical manifestation of EB patients is highly variable and very different in prognosis. Oral health deeply influences the quality of life of EB patients. Dental management is essential to prevent the aggravation of soft tissue damage and tooth loss and to improve the quality of life through prosthetic and restorative therapies. Dentists should consider the oral alterations of EB subtypes to perform a personalized approach to the patients' needs in a preventive and therapeutic point of view.
Topics: Adolescent; Adult; Aged; Child; Dental Caries; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Female; Humans; Male; Middle Aged; Quality of Life; Young Adult
PubMed: 35686231
DOI: 10.1155/2022/6493156 -
Anesthesia Progress 2020Systemic sclerosis (SSc) is an autoimmune disease that can cause fibrosis in vital organs, often resulting in damage to the skin, blood vessels, gastrointestinal system,...
Systemic sclerosis (SSc) is an autoimmune disease that can cause fibrosis in vital organs, often resulting in damage to the skin, blood vessels, gastrointestinal system, lungs, heart, and/or kidneys. Patients with SSc are also likely to develop microstomia, which can render dental treatment difficult and painful, thereby necessitating advanced anesthetic management. This is a case report of a 61-year-old woman with a history of SSc with microstomia, interstitial pneumonia, and gastroesophageal reflux disease in whom intravenous moderate sedation was performed using a combination of dexmedetomidine and ketamine for dental extractions. Both anesthetic agents are known to have analgesic effects while minimizing respiratory depression. Consequently, the increased discomfort caused by opening the patient's mouth and stretching the buccal mucosa was sufficiently managed, permitting an increase in maximum interincisal opening and completion of treatment without complications. Patients with SSc present with serious comorbidities that can negatively impact anesthetic management, so the implementation of an anesthetic plan that takes such risks into account is required. Furthermore, emergency airway management is likely to be difficult in patients with microstomia. For intravenous moderate sedation, combined use of dexmedetomidine and ketamine, which have analgesic effects while minimizing respiratory depression, may be particularly effective in patients with SSc and microstomia.
Topics: Anesthetics; Female; Humans; Ketamine; Microstomia; Middle Aged; Scleroderma, Systemic
PubMed: 32191504
DOI: 10.2344/anpr-66-03-07 -
Journal of Maxillofacial and Oral... Jun 2021Caustic soda ingestion causes strictures in the respiratory, gastrointestinal systems and even death. In the oral and perioral areas it causes contractures leading to...
Caustic soda ingestion causes strictures in the respiratory, gastrointestinal systems and even death. In the oral and perioral areas it causes contractures leading to microstomia that is difficult to manage to restore structure and function of the oral cavity. The present case is of a 42-year-old female who presented with microstomia, no endoscopic esophageal injury and ankyloglossia following ingestion of caustic soda in an attempted suicide following a dispute with her spouse. Satisfactory mouth opening and tongue movement were achieved by bilateral release of buccal contractures, commissuroplasty and release of the tongue that was tethered to the floor of the mouth.
PubMed: 33927490
DOI: 10.1007/s12663-019-01247-4 -
Korean Journal of Orthodontics Nov 2022Moebius syndrome (MBS) is a congenital neurologic disorder that causes cranio-facial abnormalities. It involves paralysis of the VI and VII cranial nerves and causes...
Moebius syndrome (MBS) is a congenital neurologic disorder that causes cranio-facial abnormalities. It involves paralysis of the VI and VII cranial nerves and causes bilateral or unilateral facial paralysis, eye movement disorder, and deformation of the upper and lower limbs. The orofacial dysfunctions include microstomia, micrognathia, hypotonic mimetic and lip muscles, dental enamel hypoplasia, tongue deformity, open bite or deep overbite, maxillary hypoplasia, high arched palate, mandibular hyperplasia or features indicating mandibular hypoplasia. This case report presents a 7-year-old male patient who was diagnosed with MBS at the age 2 years. The patient displayed typical clinical symptoms and was diagnosed with Class II malocclusion with a large overjet/overbite, tongue deformity and motion limitation, and lip closure incompetency. Treatment was initiated using a removable appliance for left scissor bite correction. After permanent tooth eruption, fixed appliance treatment was performed for correction of the arch width discrepancy and deep overbite. A self-ligation system and wide-width arch form wire were used during the treatment to expand the arch width. After 30 months of phase II treatment, the alignment of the dental arch and stable molar occlusion was achieved. Function and occlusion remained stable with a Class I canine and molar relationship, and a normal overjet/overbite was maintained after 9.4 years of retainer use. In MBS patients, it is important to achieve an accurate early diagnosis, and implement a multidisciplinary treatment approach and long-term retention and follow-up.
PubMed: 36070886
DOI: 10.4041/kjod22.012 -
Rheumatology Advances in Practice 2021SSc often leads to fibrotic cutaneous involvement of the face and reduced oral aperture, with impaired food intake and oral hygiene. Oral exercises can increase oral...
OBJECTIVE
SSc often leads to fibrotic cutaneous involvement of the face and reduced oral aperture, with impaired food intake and oral hygiene. Oral exercises can increase oral aperture but are often hampered by low adherence rates. The aim of this mixed method study was to explore the feasibility, patient satisfaction and effectiveness of two exercise programmes in SSc-associated microstomia.
METHODS
Adult patients suffering from SSc and microstomia (maximal oral aperture <40 mm) were randomized to two groups. Group A exercised with a jaw motion device (Therabite), whereas group B performed mouth-stretching exercises. Patients were expected to exercise for 10 min, three times per day for 3 months. Patients were evaluated at baseline, 3 months (period without intervention), 6 months (after 3 months of intervention) and 9 months (post-intervention). At month 6, semi-structured one-to-one interviews were conducted.
RESULTS
We included six women and three men, median age 60 years and median disease duration 8 years. At 6 months, all patients in group A ( = 4) and four in group B ( = 5) improved, with a median of 9 and 7 mm, respectively. The adherence ranged between 63.7 and 98.9% in group A and between 48.5 and 97.4% in group B. The interview revealed three themes: drivers, challenges and perceived improvement.
CONCLUSION
Both interventions improved maximal oral aperture. The adherence to therapy was high, but none of the patients considered it feasible to continue practising three times per day. Future studies are needed in order to define feasible long-term exercise programmes.
PubMed: 34013159
DOI: 10.1093/rap/rkab017 -
Indian Journal of Plastic Surgery :... Dec 2023Management of post-electric burn microstomia is a challenging task, especially in children, as it causes difficulty in feeding and airway problems (secondary to nasal...
Management of post-electric burn microstomia is a challenging task, especially in children, as it causes difficulty in feeding and airway problems (secondary to nasal airway blockage). The recreated defect is often full thickness and requires full-thickness tissue for reconstruction. The free flap can provide adequate normal tissue for the restoration of functions and aesthesis of the perioral region. However, performing free flaps in children is equally demanding due to small-diameter vessel anastomosis and postoperative monitoring. We present a case of postburn microstomia that was managed by contracture release and reconstruction by free radial artery forearm flap in a 1-year-old child. Postoperatively, at 6 months of follow-up, the flap settled well and the child was able to open his mouth fully with good aesthetic outcome. The free flap can be considered a good and safe option for perioral contracture release and reconstruction for better functional and aesthetic outcomes.
PubMed: 38105870
DOI: 10.1055/s-0043-1776008 -
Experimental and Therapeutic Medicine Jul 2020Systemic sclerosis (SSc) is a collagenosis with insufficiently known etiopathogenesis, characterized by microvasculopathy and excessive fibrosis in the context of an...
Systemic sclerosis (SSc) is a collagenosis with insufficiently known etiopathogenesis, characterized by microvasculopathy and excessive fibrosis in the context of an autoimmune disorder. The incompletely elucidated pathogenesis and limited therapeutic options, disabling aspects, skin lesions and pain determine important functional and psychological deficiencies which affect the quality of life. It is imperative to observe and correlate individual clinical and paraclinical data to optimize disease management. A group of 22 patients diagnosed with SSc, hospitalized in a university clinic in Bucharest was included in an observational study. The evolution of digital ulcers was evaluated as an indicator of vasculopathy and their status and dynamics were correlated with clinical elements reflecting the fibrotic aspect of the disease. The present study shows that the Raynaud phenomenon is almost always present during the course of the disease, but its presence is not always associated with digital ulcers. The existing data in the literature show that fibrosis is subsequent to vasculopathy, but this study did not reveal causality between these two aspects of pathogenesis. The presence of microstomia and digital contracture was identified in the presence of digital ulcers, but also in their absence. The etiopathogenic mechanisms with multiple unknown involved factors open the opportunity to investigate many aspects of SSc for optimal aiming of therapeutic interventions.
PubMed: 32508995
DOI: 10.3892/etm.2020.8572 -
Case Reports in Dentistry 2022Microstomia is an abnormally reduced oral aperture. In the literature, it is not classified by any particular size criteria, rather defined by its effects on function...
Microstomia is an abnormally reduced oral aperture. In the literature, it is not classified by any particular size criteria, rather defined by its effects on function and esthetics. Prosthodontic management of edentulous patients with microstomia is a challenging task. Use of conventional methods for recording an impression and fabricating prosthesis is not effective in such patients. To fabricate well-fitting prosthesis, accuracy of impression recording important anatomic landmarks is essential. Formation of an exacting custom tray and diagnostic cast is critical for final impression accuracy. Provision of a well-fitting prosthesis in microstomia patient will restore esthetics, comfort, and function with oral and systemic patient wellbeing. This paper presents a case report of managing an edentulous microstomia patient with sectional removable prosthesis. Furthermore, it proposes a novel classification system for microstomia patients according to severity of the condition.
PubMed: 35154831
DOI: 10.1155/2022/2686983 -
American Journal of Medical Genetics.... May 2020Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components...
Craniofacial morphogenesis is regulated in part by signaling from the Endothelin receptor type A (EDNRA). Pathogenic variants in EDNRA signaling pathway components EDNRA, GNAI3, PCLB4, and EDN1 cause Mandibulofacial Dysostosis with Alopecia (MFDA), Auriculocondylar syndrome (ARCND) 1, 2, and 3, respectively. However, cardiovascular development is normal in MFDA and ARCND individuals, unlike Ednra knockout mice. One explanation may be that partial EDNRA signaling remains in MFDA and ARCND, as mice with reduced, but not absent, EDNRA signaling also lack a cardiovascular phenotype. Here we report an individual with craniofacial and cardiovascular malformations mimicking the Ednra mouse phenotype, including a distinctive micrognathia with microstomia and a hypoplastic aortic arch. Exome sequencing found a novel homozygous missense variant in EDNRA (c.1142A>C; p.Q381P). Bioluminescence resonance energy transfer assays revealed that this amino acid substitution in helix 8 of EDNRA prevents recruitment of G proteins to the receptor, abrogating subsequent receptor activation by its ligand, Endothelin-1. This homozygous variant is thus the first reported loss-of-function EDNRA allele, resulting in a syndrome we have named Oro-Oto-Cardiac Syndrome. Further, our results illustrate that EDNRA signaling is required for both normal human craniofacial and cardiovascular development, and that limited EDNRA signaling is likely retained in ARCND and MFDA individuals. This work illustrates a straightforward approach to identifying the functional consequence of novel genetic variants in signaling molecules associated with malformation syndromes.
Topics: Animals; Craniofacial Abnormalities; Ear; Ear Diseases; GTP-Binding Protein alpha Subunits, Gi-Go; Gene Expression Regulation, Developmental; Genetic Predisposition to Disease; Humans; Loss of Function Mutation; Mandibulofacial Dysostosis; Mice; Mice, Knockout; Morphogenesis; Neural Crest; Phenotype; Receptor, Endothelin A; Signal Transduction
PubMed: 32133772
DOI: 10.1002/ajmg.a.61531