-
Neurology India 2023We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease,...
We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism).
Topics: Male; Humans; Young Adult; Adult; Blepharophimosis; Syndrome; Abnormalities, Multiple; Contracture; Intellectual Disability
PubMed: 37635513
DOI: 10.4103/0028-3886.383870 -
Genes Dec 2021We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple... (Review)
Review
We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter→10q26.2::4q26→4qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26-q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy's phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.
Topics: Abnormalities, Multiple; Adult; Chromosome Deletion; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 4; Female; Humans; Infant, Newborn; Male; Phenotype; Prognosis; Translocation, Genetic; Trisomy
PubMed: 34946906
DOI: 10.3390/genes12121957 -
ACG Case Reports Journal Oct 2019Patients presenting to the hospital with esophageal food bolus impaction often need urgent upper endoscopy. However, patients with trismus and microstomia can pose a...
Patients presenting to the hospital with esophageal food bolus impaction often need urgent upper endoscopy. However, patients with trismus and microstomia can pose a real challenge because endoscopic access in these patients can be difficult. We present a unique transoral endoscopic approach for esophageal food bolus disimpaction in a patient with microstomia and trismus resulting from chronic graft-vs-host disease.
PubMed: 31832452
DOI: 10.14309/crj.0000000000000215 -
Journal of the Korean Association of... Oct 2021Sodium hydroxide or caustic soda is a corrosive agent that can cause extensive damage to the oral mucosa, lips, and tongue when ingested either accidentally or...
Sodium hydroxide or caustic soda is a corrosive agent that can cause extensive damage to the oral mucosa, lips, and tongue when ingested either accidentally or intentionally. These injuries include microstomia, shallow vestibule, ankyloglossia, speech impairment, loss of teeth and impairment in facial expression. In the present article, we report a unique case of tongue adhesion to the mouth floor and its surgical management in a 66-year-old female patient, who had a history of caustic soda ingestion.
PubMed: 34713815
DOI: 10.5125/jkaoms.2021.47.5.394 -
International Journal of Clinical... Aug 2023Moebius syndrome (MBS) is a rare congenital nonprogressive neuromuscular disorder characterized by partial or complete, unilateral or bilateral paralysis of the facial...
UNLABELLED
Moebius syndrome (MBS) is a rare congenital nonprogressive neuromuscular disorder characterized by partial or complete, unilateral or bilateral paralysis of the facial (VII) and abducens (VI) cranial nerves (CNs). In this syndrome bilateral facial palsy may occur with the involvement of VII CN and impaired eye movements can be there because of the involvement of VI CN. It can also be associated with other CN palsies, orofacial anomalies, and limb defects. MBS is diagnosed exclusively on the basis of clinical criteria, although causative genetic patterns are being documented in recent studies. The present case report describes the dental management of a 5-year-old child diagnosed with MBS. The child presented with the abnormal shape of legs, incomplete eye closure during sleep, inability to smile, lingual hypoplasia, microstomia, and hypoplastic teeth among other dental-skeletal abnormalities, and a clinical diagnosis of MBS was made.
HOW TO CITE THIS ARTICLE
Mittal M, Kumar A, Chopra R, Diagnosis and Dental Management of a Child with Moebius Syndrome: A Case Report. Int J Clin Pediatr Dent 2023;16(S-1):S109-S112.
PubMed: 37663216
DOI: 10.5005/jp-journals-10005-2626 -
Cureus Jul 2023Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth,...
Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth, and absence or underdevelopment of the tongue. The syndrome complex of otocephaly can be categorized into four types based on associated anomalies. We present a case of this congenital anomaly in a newborn baby delivered by a 40-year-old woman who presented in active labor with premature rupture of membranes. Unfortunately, the newborn did not survive due to severe respiratory distress, which was consistent with the clinical features of this congenital anomaly. The rarity of otocephaly poses challenges for both parents and healthcare providers. Early antenatal scans are suggested for the early diagnosis of this condition. Further research and awareness are needed to better understand and manage this rare congenital disorder.
PubMed: 37575700
DOI: 10.7759/cureus.41767 -
Journal of Scleroderma and Related... Feb 2023Decreased maximal mouth opening is a common and disabling manifestation in systemic sclerosis patients. We aimed to study the course of maximal mouth opening,...
OBJECTIVE
Decreased maximal mouth opening is a common and disabling manifestation in systemic sclerosis patients. We aimed to study the course of maximal mouth opening, determinants of smaller maximal mouth opening over time and the burden of smaller maximal mouth opening on mouth handicap.
METHODS
Consecutive systemic sclerosis patients participating in the prospective Leiden Combined Care in systemic sclerosis cohort were included. Annual clinical assessment included maximal mouth opening measurement and mouth handicap evaluation (Mouth Handicap in Systemic Sclerosis scale). Presence of microstomia (maximal mouth opening < 30 mm) was studied. Maximal mouth opening over time was assessed on group level and for all patients individually. Baseline characteristics were analysed for their association with smaller maximal mouth opening over time (linear mixed-effects models). Furthermore, cross-sectional association between maximal mouth opening with Mouth Handicap in Systemic Sclerosis scale was assessed (linear regression analysis).
RESULTS
A total of 382 systemic sclerosis patients were studied with median follow-up time of 2.0 years (interquartile range = 0.0-3.0). At baseline, mean maximal mouth opening was 42.2 ± 8.0 mm and 7% suffered from microstomia. Annual decrease of > 5.0 mm in maximal mouth opening during follow-up occurred in 63 patients and was accompanied by increase in disease severity. Disease characteristics at baseline independently predictive for smaller maximal mouth opening over time were: more extended skin subtype; peripheral vasculopathy; pulmonary, renal and gastrointestinal involvement. Smaller maximal mouth opening was significantly associated with more reported mouth handicap.
CONCLUSION
The course of maximal mouth opening is stable in a majority of systemic sclerosis patients. Still, maximal mouth opening over time was smaller in patients with more severe organ involvement. Although microstomia was infrequent, a smaller maximal mouth opening was significantly associated with more mouth handicap, indicating the importance to address maximal mouth opening in routine care of systemic sclerosis patients.
PubMed: 36743815
DOI: 10.1177/23971983221138177 -
Archives of Rheumatology Jun 2021This study aims to evaluate the effect of a home-based orofacial exercise program on the oral aperture (OA) of systemic sclerosis (SSc) patients.
OBJECTIVES
This study aims to evaluate the effect of a home-based orofacial exercise program on the oral aperture (OA) of systemic sclerosis (SSc) patients.
PATIENTS AND METHODS
This single-blind prospective randomized controlled study performed between March 2017 and January 2019 included 56 SSc patients (3 males, 53 females; mean age 52.9±10.6 years; range, 31 to 70 years) with an OA of <40 mm. Patients were divided into two groups. Group 1 (n=28, mean age 53.8±9.6 years) was given orofacial exercise program twice a day for one month in addition to oral hygiene care advices, followed by no activity for the next month. Group 2 (n=28, mean age 50.0±11 years) received oral hygiene care advices for the first month followed by the same exercise program for the next month. Patients' OA was measured at baseline, and at first and second months.
RESULTS
After the first month, OA increased in Group 1 (p<0.001), whereas no change was observed in Group 2 (p=0.579). At the end of two months, there was no additional increase in Group 1 (p=0.352), while there was a significant increase in Group 2 (p<0.001). There was no difference between OAs of the groups at the end of the trial (p=0.564).
CONCLUSION
Our results suggest that home-based orofacial exercise program improves OA of SSc patients.
PubMed: 34527921
DOI: 10.46497/ArchRheumatol.2021.8295 -
International Journal of Surgery Case... Jan 2023The recessive dystrophic epidermolysis bullosa is a severe form of hereditary epidermolysis bullosa characterized by deformities of the skin, blisters and erosions on...
INTRODUCTION AND IMPORTANCE
The recessive dystrophic epidermolysis bullosa is a severe form of hereditary epidermolysis bullosa characterized by deformities of the skin, blisters and erosions on the mucous membranes. Oral manifestations are frequent and extensive vary from small discrete vesicles to large bullae, associated with microstomia, ankyloglossia and a depapilled tongue. The purpose of this case report is to describe oral health status of patient with recessive-dystrophic epidermolysis bullosa, and the measures that dentists should adopt with the purpose of provide an effective dental treatment.
CASE PRESENTATION
We present a clinical case of a patient with recessive-dystrophic epidermolysis bullosa who underwent a bone regularization and whose follow-up was carried out until healing.
CLINICAL DISCUSSION
The management of patients with RDEB in oral surgery requires the adoption of an atraumatic technique and certain precautions to limit the formation of bullae and promote mucosal healing.
CONCLUSION
We can conclude that oral management of patients with recessive dystrophic epidermolysis bullosa presents a challenge for the oral surgeon and the management is generally multidisciplinary and relies essentially on the adoption of a preventive and atraumatic approach.
PubMed: 36580730
DOI: 10.1016/j.ijscr.2022.107848 -
International Journal of Surgery... 2020Oro-facial fibrosis is a common and disabling manifestation of systemic sclerosis (SSc), causing a plethora of functional, aesthetic and social compromise, yet is...
Feasibility study of stem-cell enriched autologous lipotransfer to treat oro-facial fibrosis in systemic sclerosis (Sys-Stem): Protocol for open-label randomised controlled trial.
INTRODUCTION
Oro-facial fibrosis is a common and disabling manifestation of systemic sclerosis (SSc), causing a plethora of functional, aesthetic and social compromise, yet is without effective treatment. Autologous lipotransfer is an established minimally invasive surgical procedure that is postulated to exert anti-fibrotic effects by adipose-derived stem cells, and presents a novel method in the treatment of fibrotic conditions. This study aims to assess the safety and efficacy of autologous lipotransfer for facial involvement in SSc.
METHODS AND ANALYSIS
This is the first randomised controlled study with an open label design to assess autologous lipotransfer for oro-facial involvement in systemic sclerosis. The goals of this study are to assess the feasibility of using a range of quantitative and qualitative outcome measures to effectively measure disease severity and treatment outcome, and to assess patient acceptability for future multi-centre trials. A total of 50 participants will be randomised to a treatment or control group. The treatment group will receive autologous fat transfer to the peri-oral region by a single surgeon. Dermal fibroblasts and adipose-derived stem cells will be isolated from tissue samples. All outcome measures will be taken at baseline, then at 6 weeks, 3 months and 6 months from the time of intervention in the treatment arm, or from baseline in the control arm.
ETHICS AND DISSEMINATION
The study has ethical approval (REC reference 19/LO/0718). Results will be available to patients, patient user groups, clinicians and the public through presentations at national and international rheumatology conferences and published in peer reviewed journals.
TRIAL REGISTRATION
Registered on ISRCTN registry (ISRCTN17793055).
PubMed: 32803023
DOI: 10.1016/j.isjp.2020.07.002