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Congenital Macroglossia

Autosomal Dominant Macroglossia


Presentation

  • Coblation for Congenital Macroglossia in Beckwith-Wiedemann Syndrome Abstract Objective: To present a rare case of congenital macroglossia managed with radiofrequency ablation.[202.57.41.5]
  • Methods Design: Surgical Innovation Setting: Tertiary Government Hospital Patient: One Results A 2-year-old boy presented with congenital macroglossia, associated with difficulty feeding and phonating.[apamedcentral.org]
  • Congenital hypothyroidism presenting as isolated macroglossia in a term neonate: A case report. Indian Journal of Child Health, 5 (3), 225-227. Retrieved from[atharvapub.net]
  • Methods: Design: Surgical Innovation Setting: Tertiary Government Hospital Patient: One Results: A 2-year-old boy presented with congenital macroglossia, associated with difculty feeding and phonating.[ejournals.ph]
  • Therefore, it is necessary to identify if it is an isolated entity or a syndromic presentation (which would require genetic counseling).[elsevier.es]
Rigor
  • The rigorous review process does not allow any compromise in quality It is indexed in many indexing agencies and the articles are available under creative commons licence free of cost The frequency of publication supports many aspiring authors from India[jcdr.net]
  • URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services.[account.allinahealth.org]
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.ro]
Soft Tissue Mass
  • Fig. 14.1 Fetal T2-weighted MRI at 34.6 weeks’ gestation in the three planes (sagittal plane ( a ), coronal plane ( b ), axial plane ( c )) demonstrates the partial exophytic hyperintense soft tissue mass infiltrating the right orofacial region from the[radiologykey.com]
Pharyngitis
  • Diagnostic procedures included direct pharyngeal inspection, pharyngeal and thoracic radiography, fluoroscopy, lingual ultrasonography, biopsies in two dogs, and a postmortem examination in one dog.[vetcontact.com]
  • Macroglossia Q38.3 Other congenital malformations of tongue Q38.4 Congenital malformations of salivary glands and ducts Q38.5 Congenital malformations of palate, not elsewhere classified Q38.6 Other congenital malformations of mouth Q38.7 Congenital pharyngeal[icd10data.com]
  • […] elsewhere classified Inclusion term(s): Congenital absence of uvula Congenital malformation of palate NOS Congenital high arched palate Q38.6 Other congenital malformations of mouth Inclusion term(s): Congenital malformation of mouth NOS Q38.7 Congenital pharyngeal[icd10coded.com]
  • These thickenings, which are on the inner side of the mandibular arches, originated from the first pharyngeal arch 2 in such a way that their union is finally represented by the median sulcus of the tongue. 3 Behind the tuberculum impar, there is larger[elsevier.es]
Aspiration
  • The rigorous review process does not allow any compromise in quality It is indexed in many indexing agencies and the articles are available under creative commons licence free of cost The frequency of publication supports many aspiring authors from India[jcdr.net]
  • Foreign body aspiration is a common cause of acute stridor. The peak incidence is between one and two years of age. The foreign body is usually food. A history of aspiration or choking can be obtained in 90 percent of cases.[aafp.org]
  • We wonder if a prenatal aspiration of the tongue cyst could have forestalled this jaw deformation. Keywords: Jaw deformation, macroglossia, neonate How to cite this article: Okoro PE, Akadiri OA.[afrjpaedsurg.org]
Hypertension
  • Delivery Models Health Care Economics, Insurance, Payment Health Care Policy Health Care Quality Health Care Reform Health Care Safety Health Care Workforce Health Disparities Health Informatics Health Policy Hematology History of Medicine Humanities Hypertension[jamanetwork.com]
  • Patients with chronic airway obstruction should be assessed for pulmonary hypertension and cardiac decompensation with electrocardiography, chest radiography, arterial blood gas analysis, and Doppler echocardiography.[ispub.com]
  • […] splice, or frameshift; Loss of gene function BSCL2 allelic disorders Caveolin-1: Homozygous nonsense (Glu38X) Frequency: AGPAT2 & BSCL2 in 95% Clinical features Generalized lipodystrophy: Subcutaneous & Visceral GI: Hepatomegaly; splenomegaly; Portal hypertension[neuromuscular.wustl.edu]
Malocclusion
  • Conclusions: Early interception of macroglossia and surgical reduction in combination with orthodontic treatment can be seen as preventive measures to avoid the tongue influence on the development of malocclusions.[moh-it.pure.elsevier.com]
  • Early interception of macroglossia and surgical reduction in combination with orthodontic treatment can be seen as preventive measures to avoid the tongue influence on the development of malocclusions.[ncbi.nlm.nih.gov]
  • Section on children from conception to age three covers conditions such as cleft palate, disturbances in calcification, unusual numbers of teeth, oral habits, caries, and the development of malocclusions that start during these years.[books.google.com]
  • B- Signs: – The Dentist will observe the following: 1) Malocclusion : due to hyperactivity of tongue muscle which leads to pressure over the teeth. 2) Scalloping of the tongue : which fits the interproximal spaces between teeth. 3) Maybe associated with[dental-science.com]
  • Children with macroglossia have an increased incidence of respiratory diseases and infections, as well as malocclusions, articulatory defects and aesthetic damage.[pagepressjournals.org]
Prognathism
  • Dribbling of saliva and mandible prognathism were also noted. The child was surgically treated with a modifed Kole technique, wherein the apex of the anterior wedge resection was extended to the posterior third midline.[ejournals.ph]
  • Dribbling of saliva and mandible prognathism were also noted. The child was surgically treated with a modified Kole technique, wherein the apex of the anterior wedge resection was extended to the posterior third midline.[apamedcentral.org]
  • A 3-year-old girl visited our clinic because of congenital macroglossia, phonation problems, and prognathic appearance of the mandible. The tongue was first reduced by a central glossectomy.[ncbi.nlm.nih.gov]
  • An anterior wedge resection of the tongue at approximately six months of age to pro tect against prognathism and speech defects seems advisable.[journals.sagepub.com]
  • Angular cheilitis - sores at the corners of the mouth Crenated tongue - indentations on the lateral borders of the tongue caused by pressure from teeth ("pie crust tongue") [3] Open bite malocclusion - a type of malocclusion of the teeth [3] Mandibular prognathism[en.wikipedia.org]
Anterior Open Bite
  • Parents referred an abnormal tongue dimension since birth and the development of a progressive anterior open bite. The treatment of macroglossia included tongue reduction by partial glossectomy.[moh-it.pure.elsevier.com]
  • Maxillofacial abnormalities including anterior open bite, prognathism, and an increased angle between the ramus and body have been described.[ispub.com]
  • open bite, if a mandibular dentoalveolar protrusion or bimaxillary dentoalveolar protrusion exist, or the presence of over angulation of anterior maxillary and mandibular teeth and mandibular disproportioned overgrowth. 9 The initial approach to identifying[elsevier.es]
  • The child had a severe anterior open bite as a result of tongue thrust, with accompanying malocclusion.[archivesofpathology.org]
Tongue Ulcer
  • CLINICAL FEATURES Noisy breathing Difficulty with chewing/ swallowing Drooling Slurred speech Widened interdental space Scalloping/ crenations Open bite/ mandibular prognathism Dry/ cracked tongueUlceration/ secondary infection/ hemorrhage 11[slideshare.net]
Hypersalivation
  • The diagnosis of macroglossia is based on subjective clinical criteria such as the morphology and amount of protrusion of the tongue, difficulty in articulating sounds, breathing, and hypersalivation.[oalib.net]
Ankylosis
  • The cervical spine Ankylosis: Early in life Skeletal: Other Thumbs: Short malformed Clinodactyly Femoral necks: Short, Broad Tibial osteochondromas: Proximal; Medial Jaw: Ankylosis Thoracic insufficiency syndrome (TIS) Pneumonia Heart failure: Right-sided[neuromuscular.wustl.edu]
Hyperkeratosis
  • The histopathological section shows hyperkeratosis of surface epithelium with elongation of rete ridge and hypertrophy of muscle layer. Therefore it was diagnosed as congenital muscular macroglossia.[kjorl.org]
Anxiety Disorder
  • Read more: Drugs to treat anxiety disorder » Parafunctional habits These habits, such as tongue thrusting and tooth clenching, are often learned behaviors. Working with an occupational therapist can help you break them.[healthline.com]
Speech Disorders
  • Abstract We studied the speech disorders resulting from the congenital muscular macroglossia and its healing process, especially with regard to the articulation disorders, through the investigation before and after operations that were held twice with[jstage.jst.go.jp]
  • disorders  deformities in dental occlusion  Difficulties in swallowing TREATMENT  Partial ankyloglossia are self corrective  Complete ankyloglossia can be surgically treated by frenulectomy 15.[slideshare.net]
  • The operation is radical and most effective method of correcting the size of the language, but it is prescribed only in extreme cases: permanent difficulty breathing; the inability to accept or process foods; significant speech disorders that are not[medicalj-center.info]

Workup

  • […] lateral radiograph of the knee may be obtained to look for the distal femoral epiphysis; this ossification center appears at about 36 weeks' gestation, and its absence in a term or postterm infant indicates prenatal effects of hypothyroidism. [16] See Workup[emedicine.medscape.com]

Treatment

  • The treatment of macroglossia included tongue reduction by partial glossectomy. She was seen regularly and at the age of eight years old a lingual frenectomy was performed and an orthodontic treatment was planned.[moh-it.pure.elsevier.com]
  • . 17 In some cases of macroglossia, the treatment of choice must be surgery.[elsevier.es]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • Ex utero intrapartum treatment (EXIT) in the management of cervical lymphatic malformation. J Pediatr Surg. 2015;50:311–4. CrossRef PubMed Google Scholar 6. Shih JC, Hsu WC, Chou HC.[link.springer.com]

Prognosis

  • Prognosis: The prognosis and the management are decided on the accompanying malformations. Usually, the prognosis is poor, with high levels of mortality.[intechopen.com]
  • Prognosis At the severe end of the spectrum, patients are at risk of early death due to complications arising from hypoglycemia, prematurity, cardiomyopathy, macroglossia, or tumors. In patients who survive childhood, prognosis is generally good.[orpha.net]
  • Prognosis Prognosis in amyloidosis is dependent primarily on the degree of cardiac involvement and, in AL amyloidosis, on circulating light-chain levels.[acc.org]
  • Prognosis Prognosis is excellent if treatment is timely. Most children achieve normal physical and mental growth status. Regular follow-ups and blood thyroid hormone measurements are needed for optimum management.[lecturio.com]
  • Prognosis for long term survival is good if these children are identified early and appropriately screened for malignancy REFERENCES: 1. Mark. A. Sperling, Genetic disorders of Metabolism.[jemds.com]

Etiology

  • Another classification, described by Myer et al. in the same year, 13 places macroglossia as generalized or localized, subdividing it according to its etiology in congenital, inflammatory, traumatic, metabolic and neoplasic. 12 3 Etiology of macroglossia[elsevier.es]
  • BENIGN MIGRATORY GLOSSITIS Synonyms-georgaphic tongue,erythema migrans and wandering rash of tongue ETIOLOGY The exact etiology remains unknown. It may be genetic.[slideshare.net]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Physical examination of the tongue alone should reveal signs of the cause or at least help to rule out the etiologic classes that are not involved.[emedicine.medscape.com]

Epidemiology

  • Each age-specific section covers the physical, cognitive, emotional, and social changes that children experience, as well as the epidemiology of dental disease at that age.[books.google.com]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.ro]
  • […] medullary dysplasia; Overgrowth of external genitalia Cardiomyopathy : Occasional Laboratory Hypoglycemia External link: Gene Reviews Myhre Syndrome 8 Mothers against decapentaplegic, drosophila, homolog of, 4 (SMAD4) ; Chromosome 18q21.2; Dominant Epidemiology[neuromuscular.wustl.edu]
  • […] neoplasms; mainly Wilms tumor and hepatoblastoma Omphalocele / exomphalos Adrenocortical cytomegaly Renal abnormalities Neonatal hypoglycemia Terminology Beckwith syndrome Wiedemann-Beckwith syndrome Exomphalos, macroglossia, gigantism (EMG) syndrome Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of the enlarged tongue is related to the specific etiologic factors.[emedicine.medscape.com]
  • […] cytomegaly Renal abnormalities Neonatal hypoglycemia Terminology Beckwith syndrome Wiedemann-Beckwith syndrome Exomphalos, macroglossia, gigantism (EMG) syndrome Epidemiology Incidence of 1:13,700 births Occurs in a variety of ethnic populations M F Pathophysiology[pathologyoutlines.com]
  • Etiology and Pathophysiology of Congenital Hypothyroidism Anatomic defects of the thyroid gland The thyroid gland develops from the fourth branchial pouch in the buccopharyngeal cavity during the fourth to tenth week of gestation.[lecturio.com]
  • A full discussion of the pathophysiology of the disease is beyond the scope of this review, but a brief working understanding is helpful to best understand the treatment options.[acc.org]

Prevention

  • Conclusions: Early interception of macroglossia and surgical reduction in combination with orthodontic treatment can be seen as preventive measures to avoid the tongue influence on the development of malocclusions.[moh-it.pure.elsevier.com]
  • Early interception of macroglossia and surgical reduction in combination with orthodontic treatment can be seen as preventive measures to avoid the tongue influence on the development of malocclusions.[ncbi.nlm.nih.gov]
  • Other chapters explore the examination, treatment planning, radiographic concerns, prevention, trauma, restorative dentistry, pulp therapy, orthodontics, and behavior management of each age range.[books.google.com]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]

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