Relative Macroglossia Research Articles

Case reports of oral appliance therapy on three young adults with Down syndrome and OSA.

Patients with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) due to hypotonia, weight, underdeveloped midface, and relative macroglossia. This article presents three cases of young adults with DS, who were diagnosed with mild to severe OSA and unable to tolerate positive airway pressure therapy. These patients have been successfully treated with a custom-made mandibular advancement device (MAD) or dual treatment with MAD and bi-level positive airway pressure (PAP) therapy. The baseline apnea-hypopnea index (AHI) of the three patients were 15.5/h, 31.8/h, and 41.3/h. The follow-up AHI after the application of MAD in three patients was 25/h (13 months after), 6/h (ODI 4%, 57 months after), and 21.8/h (21 months after), respectively. The application of MAD to treat OSA in patients with DS is a reasonable alternative when patients refuse PAP therapy. Although MAD might be less effective than PAP therapy, significant symptomatic improvement could be found in patients with DS after oral appliance therapy. The combination of MAD and PAP can decrease the PAP pressure and therefore improve adherence. This is the first case report to show that young adult patients with DS can successfully benefit from oral appliance therapy for OSA treatment.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.

Spontaneous Regression of Lymphatic Malformation -A Rare Case of Transient Macroglossia

Lymphatic malformation (LM) is a rare benign proliferation of dilated lymphatic vessels with inappropriate communication, filled with lymphatic fluid and lined by endothelial cells. Its occurrence is rare in the oral cavity; however, inside the oral cavity most common site is anterior two-thirds on the dorsum of the tongue, presenting as macroglossia. Macroglossia compromises the airway, often leads to obstructive sleep apnea, malocclusion, and speech and mastication difficulty. The main objective of tongue LM treatment is to preserve the taste sensation, restoration of the tongue size for articulation and cosmesis. We report a rare case of transient intermittent macroglossia due to LM. The patient presented with painful swelling of the tongue, relative macroglossia. There was spontaneous regression of LM with antibiotics and corticosteroids. LM can grow suddenly due to infection or hemorrhage and can shrink spontaneously. Upon treatment of the infection, there is spontaneous regression, total or partial. Therefore, expectant management should be considered in the treatment of tongue LM, to preserve the functions of tongue.

The Successful Resuscitation in a Neonate with Down Syndrome after 45 minutes: A Case Report

Introduction: Patients with Down syndrome (DS due to relative macroglossia and dynamic airway collapse) are vulnerable to significant upper airway complications. Obstructive sleep apnea (OSA) is a common condition and noted in about 79% of these children . Children with OSA, with or without DS, are sensitive to respiratory depression by drugs such as sedatives, opioids and hypnotics. Abnormalities of the cardiovascular system are also common in Down syndrome. Case Report: A nine_ day old male preterm newborn with DS (e.g. gestational age of 35 weeks) was brought to operation room (OR) for insertion of central venous line and surgery of duodenal atresia. During transportation to NICU, in OR he arrested and then after 45 minutes resuscitation, he returned to life. Conclusion: The placement of CVL could precipitate triggers of cardiac arrest, particularly in preterm newborn.

Tongue and Upper Airway Dimensions: A Comparative Study between Three Popular Brachycephalic Breeds

Simple SummaryBrachycephalic obstructive airway syndrome is a debilitating disease complex, that affects severely brachycephalic dogs, impairs their quality of life and shortens life expectancy. Macroglossia has been identified as part of the soft tissue conditions that characterize brachycephalic breeds. Despite similar degrees of brachycephalism comparing the common breeds French bulldogs, English bulldogs and pugs, several breed specific characteristics contributing to brachycephalic obstructive airway syndrome have been described in the past. The present study aimed to examine the tongue volume and at three levels cross-sectional areas of the tongue, oropharyngeal airways, soft palate and nasopharyngeal airways in the aforementioned breeds. Assessment of computed tomography scans revealed smaller tongues in pugs compared to French and English bulldogs, with values being close to previously published data in mesaticephalic breeds. Comparing the cross-sectional areas between breeds, several differences were identified, however, calculating the impact of soft tissue on total airways areas uncovered only differences between pugs and French bulldogs at the most caudal location, where the latter breed had a greater ratio, presumably in consequence to a significantly larger oropharyngeal airway area. These findings corroborate the importance of respecting breed specific differences in regard to surgical treatment of brachycephalic obstructive airway syndrome.Relative macroglossia has been identified in brachycephalic compared to mesaticephalic dogs. This study assessed the tongue volume comparing three common brachycephalic breeds, including 30 French bulldogs, 30 pugs, and 15 English bulldogs. Computed tomography scans of intubated dogs with the hard palate suspended were examined for total tongue volume and cross-sectional areas (CSAs) of the tongue, oropharynx, soft palate, and nasopharyngeal airways at three levels: 1, caudal tip of the hard palate; 2, caudal tip of the hamulus; 3 cranial to the basihyoid bone. Tongue volume normalized to bodyweight, was significantly higher in English and French bulldogs than in pugs. Normalized to skull length, CSA of the tongue was smaller in pugs than in French and English bulldogs. At level 3, French bulldogs had larger oropharyngeal CSA than English bulldogs and pugs. Soft palate CSA was the largest in English bulldogs at level 3. At levels 1 and 2, soft palate and nasopharyngeal CSA was the smallest in pugs. At level 3, French bulldogs had higher total airway/soft tissue ratios than pugs. The smaller tongue volume in pugs questions the accuracy of the term macroglossia in this breed and these findings should be considered if surgical correction is sought.

Children with Down syndrome and mild OSA: treatment with medication versus observation.

Children with Down syndrome (DS) have a high prevalence of obstructive sleep apnea (OSA). Anti-inflammatory medications have been shown to be an effective treatment for mild OSA in otherwise healthy children. However, the efficacy in children with DS and mild OSA has not been investigated. Our aim was to examine the polysomnographic changes of children with DS and mild OSA treated with medication. A retrospective chart review was performed in children with DS (< 18 years) and mild OSA (obstructive apnea-hypopnea index ≤ 5 events/h) diagnosed by polysomnography (PSG) between 2006 and 2018. Patients were included if they were treated with medications (intranasal corticosteroids and/or montelukast) or by observation with a duration of at least 3 months and had baseline and follow-up PSGs. Demographic data, comorbid diagnoses, and PSG data were collected and analyzed. Forty-five children met inclusion criteria. In the medication group, 29 children were identified. The median age was 7.4 years (interquartile range [IQR] 4.9-9.3). In the observation group, 16 children were identified. The median age was 4.0 years (IQR 3.2-5.3). The median time from baseline to follow-up PSG was 14.0 months (IQR 10.0-22.9) for the medication group and 10.5 months (IQR 6.5-33.5) for the observation group. There were no significant changes in the median obstructive apnea-hypopnea index from the baseline to follow-up PSG in either the medication group (2.8 [IQR 2.2-3.6) versus 3.5 [IQR 1.4-4.8) events/h; P = .25) or the observation group (2.3 [IQR 1.3-3.1] versus 2.9 [IQR 1.9-6.8] events/h; P = .12). Similarly, there were no significant differences in apnea-hypopnea index, oxygen nadir or end-tidal carbon dioxide between the groups (P = .07-1). In our cohort, medication therapy did not significantly improve polysomnographic measures in children with DS and mild OSA. Several factors such as hypotonia and relative macroglossia may explain the ineffectiveness of medical therapy for OSA in this population. Further prospective studies are necessary to confirm these results and to evaluate if a subgroup of DS children may benefit from medical therapy.

The impact of tongue dimension on air volume in brachycephalic dogs

To compare the dimensions and density of the tongue in brachycephalic and mesaticephalic dog breeds and to document the relative extents of the nasopharyngeal and oropharyngeal airways occupied by the tongue and palatal tissues. Case control study. Sixteen brachycephalic dogs and 12 mesaticephalic dogs. The volume of the tongue was measured with computed tomography in all dogs. Cross-sectional areas of tongue, oropharynx, nasopharynx, and palatal soft tissue were evaluated at two levels, the caudal aspect of the hard palate and the level of the hamulae of the pterygoid. Density of the tongue and soft palate were measured. All variables were compared between brachycephalic and mesaticephalic dogs (P ≤ .05). Absolute tongue volumes did not differ between groups, the volume of the tongue was greater in brachycephalic dogs than in mesaticephalic dogs when expressed relative to (a) body weight (median 5650, interquartile range [IQR] 4833-6522 vs median 4454, IQR 4309-4743, respectively), (b) ratio between skull length/width (70 833, IQR 62490-126 209 vs 48 064, IQR 22984-64 279, respectively), and (c) skull length (689.93, IQR 618.55-970.61 vs 460.04, IQR 288.77-561.69, respectively). The proportion of air (oropharyngeal and nasopharyngeal)/soft tissue (tongue and palatal tissue) in brachycephalic dogs was decreased by approximately 60%, and the tongue was approximately 10 times denser in brachycephalic dogs than in mesaticephalic dogs. A relative macroglossia was detected in brachycephalic dogs along with reduced air volume in the upper airway. Tongues of brachycephalic dogs were denser than those of mesaticephalic dogs. The relative macroglossia in brachycephalic breeds may contribute to upper airway obstruction.

Predictors of Obtaining Polysomnography Among Otolaryngologists Prior to Adenotonsillectomy for Childhood Sleep-Disordered Breathing.

(1) To assess the predictors for obtaining polysomnography (PSG) in children undergoing adenotonsillectomy (AT) for sleep-disordered breathing, and (2) to estimate the adherence to the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) guideline recommendations for pre-AT PSG. This was a retrospective cohort study of children who were seen in the Pediatric Otolaryngology Clinic and underwent AT for sleep-disordered breathing over a 13-month period at a single tertiary care children's hospital. Patients with and without pre-AT PSG were compared using bivariate and logistic regression analysis to identify predictors for PSG. Electronic medical records were reviewed for demographic variables, medical comorbidities, and PSG data. Adherence to AAO-HNS guideline recommendations was estimated by calculating the proportion of patients who had a PSG among those who met the recommended criteria for pre-AT PSG. Mean age was 6.6 ± 3.6 years with 53% male. A total of 65 of 324 children (20%) underwent PSG prior to AT. The only factor significantly associated with pre-AT PSG was age 1 to 3 years (odds ratio 4.5, 95% confidence interval [2.2, 9.0], P < .001). Among patients who met AAO-HNS criteria for pre-AT PSG, 28 of 128 (20%) underwent PSG compared to 35 of 186 (19%) who did not meet criteria (odds ratio 1.0, 95% confidence interval [0.6, 1.9], P = .87). Among children who underwent AT, the only significant predictor of obtaining pre-AT PSG was age 1 to 3 years. The rate of adherence to the AAO-HNS guideline recommendations was low (20%), which represents an educational opportunity.

MANEJO ESTOMATOLÓGICO DE UN PACIENTE PEDIÁTRICO CON DISTROFIA MUSCULAR DE DUCHENNE. REPORTE DE UN CASO

La Distrofia muscular de Duchenne (DMD) es una enfermedad ligada al cromosoma X, que afecta aproximadamente 1 de cada 3,300 varones nacidos vivos. Es causada por la ausencia o la mutación del gen que codifica la proteína distrofina. El propósito de este caso fue revisar la literatura actual sobre los aspectos importantes de atención infantil en la DMD. PRESENTACIÓN DE CASO: Acude a la clínica de Odontopediatría, un paciente masculino de 8 años de edad con discapacidad para la marcha y constitución ectomorfica, diagnosticado médicamente de DMD. A la exploración intraoral se encontró: clase I de Angle, mordida borde a borde anterior, diastemas, apiñamiento anteroinferior, gingivitis localizada, caries activas y macroglosia relativa. El manejo estomatológico fue realizado en cuatro fases: Preventiva, Restauradora, Quirúrgica y Mantenimiento. Se logró gran éxito clínico, requiriendo de un trabajo multidisciplinario, para proporcionarresultados satisfactorios a largo plazo que incrementen la calidad de vida del paciente.

Multidisciplinary Alternatives to CPAP Program for CPAP-Intolerant Patients.

Continuous positive airway pressure (CPAP) intolerance remains a persistent problem for many obstructive sleep apnea patients. Clinicians and researchers continue to search for other effective treatment modalities given the well-documented sequelae associated with untreated obstructive sleep apnea. A multidisciplinary "Alternatives to CPAP program" (ALT) can facilitate systematic evaluation of non-CPAP therapies appropriate for an individual patient. We review successful strategies and barriers encountered during implementation of an ALT at our institution. Creation of similar programs in private practice and academic settings can help medical, dental, and surgical sleep medicine specialists coordinate evaluation and treatment of CPAP-intolerant patients.

Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation

Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways.

Midline posterior glossectomy and lingual tonsillectomy in obese and nonobese children with down syndrome: Biomarkers for success

To examine outcomes following midline posterior glossectomy (MPG) plus lingual tonsillectomy (LT) for the treatment of significant obstructive sleep apnea (OSA) in children with Down syndrome (DS). Patients with DS who had persistent OSA following tonsillectomy and adenoidectomy (TA) and were relatively intolerant of positive airway pressure (PAP) therapy were evaluated by physical examination and sleep/CINE magnetic resonance imaging to determine the etiology of upper airway obstruction. Patients with relative macroglossia underwent MPG plus LT if required. Successful surgical outcome was defined as the resolution of OSA or the ability to tolerate PAP. Thirteen children (8 male, 5 female), mean (standard deviation) age 14.2 (4.0) years underwent MPG plus LT. Fifty-four percent of patients were obese (Body mass index [BMI] > 95th centile) and 8% were overweight (BMI 85th-95th centile) preoperatively. All patients underwent pre- and postoperative polysomnography. Postoperatively, the obstructive apnea-hypopnea index fell significantly from 47.0/hour to 5.6/hour (P <.05) in normal weight individuals who did not become obese, but not in obese patients or those who became obese postoperatively. Successful surgical outcome was seen in all (N = 6) children who were normal weight or overweight preoperatively compared with none who were obese preoperatively (N = 7). Midline posterior glossectomy and LT are beneficial in normal weight and overweight children with DS who have persistent OSA following TA and are intolerant of PAP therapy. Obesity pre- or postoperatively portends a worse prognosis following MPG, suggesting that aggressive weight loss initiatives should be considered as an adjunct to surgery in this population. 4. Laryngoscope, 127:757-763, 2017.

Macroglosia congénita: características clínicas y estrategias de tratamiento en la edad pediátrica

Congenital macroglossia is a condition that consists in an enlarged tongue that in resting position protrudes beyond the alveolar ridge. It has been classified in two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia. As this alteration may be due to different causes, its incidence is not known. It is more frequently associated to Beckwith-Wiedemann syndrome, to mucopolysaccharidosis diseases and to Pompe's disease, and it has been less frequently associated to lymphangioma, hemangioma or isolated muscular hypertrophy. Macroglossia is characterized by an enlarged and thick tongue that may have fissures and ulcers, may cause language alterations, difficulties for feeding and swallowing, sialorrhea and recurrent infections of the upper airway or even its obstruction. Its clinical evaluation must include a complete clinical chart with careful physical exploration and a pedigree of that may identify the presence or absence of a hereditary associated syndrome. Macroglossia management is complex. More than twenty different surgical options to reduce the tongue size have been proposed, however, so far there is not a general agreement in this respect. The objective of this work is to review clinical and surgical aspects related to macroglossia from the point of view of non-surgical pediatricians and genetists, addressed to the different medical specialists, including the maxillofacial surgeons involved in the management of these patients.

Congenital macroglossia: clinical features and therapeutic strategies in pediatric patients

Congenital macroglossia is a condition that consists in an enlarged tongue that in resting position protrudes beyond the alveolar ridge. It has been classified in two categories: true macroglossia, which occurs in congenital or acquired forms, and relative macroglossia. As this alteration may be due to different causes, its incidence is not known. It is more frequently associated to Beckwith-Wiedemann syndrome, to mucopolysaccharidosis diseases and to Pompe's disease, and it has been less frequently associated to lymphangioma, hemangioma or isolated muscular hypertrophy. Macroglossia is characterized by an enlarged and thick tongue that may have fissures and ulcers, may cause language alterations, difficulties for feeding and swallowing, sialorrhea and recurrent infections of the upper airway or even its obstruction. Its clinical evaluation must include a complete clinical chart with careful physical exploration and a pedigree of that may identify the presence or absence of a hereditary associated syndrome. Macroglossia management is complex. More than twenty different surgical options to reduce the tongue size have been proposed, however, so far there is not a general agreement in this respect. The objective of this work is to review clinical and surgical aspects related to macroglossia from the point of view of non-surgical pediatricians and genetists, addressed to the different medical specialists, including the maxillofacial surgeons involved in the management of these patients.

Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation

Background and objectivesChildren with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. MethodsIRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Results and conclusionsMinimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways.

Combined Therapy for Mandibular Prognathism: Sagittal Split Osteotomy with Excision of Tongue

In the evaluation of the beauty and functional integrity of the lower face, the oral cavity, teeth, mandible, maxilla, and the size and position of the tongue are important. The tongue locates forward and is larger than normal in prognathism, in which the jaw protrudes from the skull. It is not clear whether an enlarged tongue causes the open bite, protrusion or dental arch misalignment, or is a result of them. Here, we report two patients with mandibular prognathism and relative macroglossia, which were treated by mandibular setback surgery using a bilateral sagittal split osteotomy (BSSO) and excision of the tongue. This procedure achieved aesthetic improvement of the face and dentition.

Variable Expressivity and Clinical Heterogeneity Can Complicate the Diagnosis and Management of Pfeiffer Syndrome

We report here a newborn female infant with striking features consistent with severe Pfeiffer syndrome (PS). Pfeiffer syndrome is a rare craniofacial disorder that has an autosomal dominant mode of inheritance (OMIM 101600). Our patient had unexpected differences between her clinical features and those predicted from her genetic tests. The following clinical features were noted: severe exophthalmos, syndactyly, upper extremity contractures, and relative macroglossia. A head computed tomography with three-dimensional reconstruction showed that she did not have craniosynostosis. Genetic tests included a normal 46,XX karyotype and a chromosomal microarray that revealed a copy number gain at 14q23.1 as well as a copy number loss at 16p13.2. FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III. However, her Trp290Cys FGFR2 mutation is reported to be associated with PS type II that includes kleeblatschädel (or "cloverleaf") skull anomalies as a cardinal feature. Our patient's lack of craniosynostosis predicted from this mutation is a striking example of variable expressivity. Such discrepancies between the physical findings (phenotype) and the mutation identified (genotype) and the association of different findings with different mutations in the same gene (clinical heterogeneity) can present difficulties in case management. Clinicians should be guided by careful phenotyping rather than by genotypic predictions alone.

Glossectomy as an adjunct to correct an open-bite malocclusion with shortened maxillary central incisor roots

A young man, 19 years of age, with the chief complaint of an anterior open bite, came for orthodontic treatmentwith a skeletal Class I relationship, anterior open bite, shortened maxillary incisor roots, and relative macroglossia. The malocclusion was treated by extracting the maxillary first premolars and using a fixed edgewise appliance. A partial glossectomy was performed before the orthognathic surgery with a 3-piece segmental LeFort I mandibular setback, and advancement was achieved with a reduction genioplasty. Afunctional and esthetic occlusion with an improved facial profile was established, and the apex of the maxillaryleft central incisor became slightly rounded after prolonged and significant tooth movement. Fouryearsaftertreatment, there was occlusal stability of the results, and no further root shortening was observed.

Lingual tonsillectomy and midline posterior glossectomy for obstructive sleep apnea

Obstructive sleep apnea syndrome (OSA) results from the interaction between a structurally small and vulnerable upper airway and loss of compensatory reflexes. Surgical treatment is indicated in patients who fail medical treatment and aims to reduce obstruction by increasing airway size and decreasing collapsibility. Common components of airway obstruction in obstructive sleep apnea are relative macroglossia and lingual tonsil enlargement, both of which are amenable to surgical reduction. A technique is described that uses transoral, angled lens, rigid fiber-optic scopes with video camera to provide visualization and a malleable plasma surgery tool for tissue removal. Using this technique as part of a multilevel surgical approach, the apnea-hypopnea index was significantly reduced. Postoperative morbidity was generally low and included postoperative pain, dysphagia, transient change in taste, and bleeding. Patients were monitored in the outpatient ward and were discharged the morning following surgery. No patient required tracheotomy.

Flexible fiber CO2 laser ablation of subglottic and tracheal stenosis

Flexible fiber CO2 laser ablation of subglottic and tracheal stenosis