Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Macroglossia”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 379 records · Page 21Linked to original sources
PubMed1991

[Tongue reduction in children with Down's syndrome; a functional operation].

In this article the results of tongue reduction in a group of seven children with Down's syndrome are described. This surgical procedure was performed because of macroglossia, present in all seven children. Postoperatively all children eat and drink better, drooling has stopped and both articulation and phonation have improved. Therefore tongue reduction should be considered a functional operation that can improve the quality of life of the child and its family.

Child↗
PubMed1989

[Beckwith-Wiedemann syndrome. Presentation of a clinical case].

The interest we see in oral pathology about Beckwith-Wiedemann syndrome is not strictly related to the association with neoplasms of the syndrome but, first of all, to the high frequency of macroglossia in the patients affected. In fact this pathologic situation, setting up since birth, can strongly modify the growth of teeth and facial skeleton. Therapy consists in a partial glossectomy. After this reducing is advised a contention applied to the chin.

Beckwith-Wiedemann Syndrome↗
PubMed1986

[Amyloidosis of the A-kappa type].

A 73-year-old patient complained of increasing macroglossia and symmetrical enlargement of the submandibular region. A tongue biopsy showed typical deposits of amyloid by Congo red staining and polarization microscopy. Similar deposits were found in biopsy specimens of the submaxillary gland and the rectum. Electron microscopy revealed typical amyloid fibrils. With the indirect immunoperoxidase technique the amyloid was classified as being of immunoglobulin kappa-light-chain origin (A-kappa), because only anti-A kappa, but not anti-A lambda (several antisera of non-overlapping specificity), anti-ASc1 or anti-AF antisera were found to be reactive. Correspondingly, Bence Jones protein of the kappa type was found in the urine. In the bone marrow there was an increase in plasma cells of up to 10%. Cytostatic therapy with melphalan and methylprednisolone seemed to stop the progression of amyloid deposition.

Aged↗
PubMed1986

[Wiedemann-Beckwith syndrome. Study of an oligosymptomatic form].

An infant with an incomplete expression of Wiedemann-Beckwith syndrome during the neonatal period was suspected to suffer from hypothyroidism. However, after exclusion of this tentative diagnosis the phenotypic characteristics lead to the correct diagnosis. In addition to the macroglossia, the typical facial signs of this syndrome such as capillary haemangioma of the glabella, soft tissue folds under the eyes and linear indentations of the ear lobes are demonstrable. Gigantism and umbilical hernia are absent. A tendency to hypoglycaemia and the increased risk of malignancy are the important aspects of this syndrome, which may be expressed in a variety of clinical forms. So far the aetiology of this syndrome is unknown although familial cases implicate the involvement of genetic factors.

Abnormalities, Multiple↗
PubMed1985

[Acquired systemic amyloidosis associated with monoclonal gammopathy].

A case of acquired systemic amyloidosis with monoclonal gammopathy in a woman aged 67 years is reported. Clinical features included macroglossia, restrictive cardiomyopathy, cutaneous purpura and carpal-tunnel syndrome. A short review on amyloidosis appears in the case discussion.

Aged↗
PubMed1979

[Exaggerated somatomedin activity in the Beckwith-Wiedemann syndrome (author's transl)].

Beckwith and Wiedemann described the syndrome of exomphalos, macroglossia and gigantism with hypoglycemia and visceral organ hyperplasias. In some cases of severe hypoglycemias hyperplasia of beta cells of the pancreas was found. Hyperinsulinism, which has to date rarely been investigated, reacts strongly to beta cell stimulation and can hardly be suppressed. The cause of gigantism and organ hyperplasias is still unknown. After a short description of a case of hypoglycemias in the first two weeks of life a long-term profile of the endocrinologic abnormalities and carbohydrate metabolism is given. Growth hormone response to insulin is normal, tolbutamide is followed by severe hypoglycemias without an increase in the immunoreactive insulin levels; the activity of somatomedin is excessively increased. The high activity of somatomedin explains the high potency of growth in the different tissues and the hypoglycemic reactions and it seems reasonable to assume that somatomedin could create nesidioblastosis of the pancreas with hyperinsulinism and severe hypoglycemias. It is likely that the Beckwith-Wiedemann syndrome and the Laron type familial dwarfism with high plasma growth hormone, absent activity of somatomedin, and disorders in carbohydrate metabolism represent complementary diseases.

Abnormalities, Multiple↗
PubMed1977

[EMG syndrome. Review apropo of 2 cases].

Two cases of EMG syndrome are reported (exomphalos, macroglossia, gigantism). One of them died some hours after the birth. A review of clinical findings, pathogenesis and evolution is presented. Only 60 cases of this rare disease are reported in the world literature.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors.

Nine cases of congenital hemihypertrophy of an entire half of the body ("true" hemihypertrophy) were investigated in relation to literature data. The left side was more often affected (7:2) and the abnormality was more frequent in females (5:4). Associated abnormalities were present in all cases: a single abnormality in 3 cases (mental retardation, iris heterochromia and, respectively, left foot gigantism) and 3 to 13 abnormalities in the other 6 cases. Prominent hemiface, asymmetric macroglossia on the affected side, unequally developed breasts, unilateral gigantism of the foot, iris heterochromia, duplication of the renal pelvis, were considered important signs which easily draw attention. Out of nine cases investigated, three presented associated tumors: two tumors, one cerebral (malignant ependymoma) and the other hepatic (cavernous hemangioma) in one case, hepatoblastoma in another case, and multiple skin angiomas in the affected side of the third one. The case presenting two tumors had also the greatest number (twelve) of associated abnormalities.

Abnormalities, Multiple↗
PubMed1980

[Experiences with plastic surgery in mongoloid children].

The aim of plastic surgery in children with down-syndrome is the improvement of speech (by correction of macroglossia) as well as improvement of cosmetic appearance (by correction of saddle nose deformity, epicanthic folds receding chin and deformity of ears). Altering the typical mongoloid physiognomy facilitates the integration of these children into the community.

Adolescent↗
PubMed1993

[Non-obstructive etiology of mouth breathing].

Besides nose obstruction other etiological factors can be advanced to explain the development of oral respiration: malformation of the face (Binder's syndrome, Bimler's microrhinodysplasia, Apert's and Crouzon's syndrome); alterations or deviations of the tongue (Robin's syndrome, macroglossia, ankyloglossia); lip closure problems.

Child↗
PubMed1997

Beckwith-Wiedemann syndrome: dental management.

Beckwith-Wiedemann syndrome (BWS) comprises multiple congenital anomalies with a risk of childhood tumours. Macroglossia is the most common manifestation. Two cases are presented to illustrate the importance of early referral and the role of preventive dentistry.

Beckwith-Wiedemann Syndrome↗
PubMed1998

Nodular amyloidosis of the tongue.

Amyloidosis is a rare disease in otorhinolaryngology. It presents a wide range of clinical manifestations and its deposits can be found in various organs. In the paper, a case of a 73-year-old female patient with macroglossia, as a symptom of nodular amyloidosis is reported. The predominant features were dysphagia and speech impairment caused by the tongue protruding beyond the teeth. The histologic appearance consisted of a nodular pattern of amyloid deposition. The amyloid was of an AL (lambda-light chain) type as shown immunohistochemically. The presented case shows the importance of investigating the patient for co-existing disease.

Aged↗
PubMed1986

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.

A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. Results from a muscle biopsy specimen obtained at age 4 1/2 months showed ragged-red fibers and increased glycogen and lipid droplets. With the cytochrome c oxidase reaction, only 5% of the fibers stained positively in the biopsy specimen. Cytochrome c oxidase activity was 7.3% of normal in muscle mitochondria and 12.2% of normal in heart mitochondria. Reduced-minus-oxidized cytochrome spectra showed lack of the cytochrome aa3 peak. Immunotitration using antibodies against purified human heart cytochrome c oxidase showed normal amount of cross-reacting material in both heart and muscle. The genetic error could have involved a cytochrome c oxidase isozyme common to heart and muscle.

Cytochrome-c Oxidase Deficiency↗
PubMed2000

Extensive lymphangioma presenting with upper airway obstruction.

OBJECTIVE: To describe the results of an outcome survey of 18 cases of pediatric lymphangioma with dyspnea from encroachment on the tongue base, parapharyngeal space, and/or larynx. DESIGN: Retrospective review of files from January 1983 to September 1998. SETTING: Pediatric otolaryngology departments from 2 referral centers. PATIENTS: Eighteen patients were treated. The average age at initial surgery was 22 weeks (median, 5 weeks). All presented with at least unilateral suprahyoid and infrahyoid cavernous (microcystic) lymphangioma. The tongue base was involved in 11 patients, the parapharyngeal space in 12, and the larynx in 8. INTERVENTIONS: Neck dissection was performed initially in all patients. Tracheotomy was performed in 9 patients (50%). Macroglossia was treated by V glossoplasty. Parapharyngeal extensions were treated by cervicotomy or endoscopy, and larynx and tongue base extensions by carbon dioxide laser photocoagulation. Supraglottic laryngectomy was performed in 2 patients. MAIN OUTCOME MEASURES: Residual disease, decannulation, duration of tracheotomy, and persistent respiratory symptoms. RESULTS: The average follow-up was 4 years postoperatively. One postoperative death occurred. Sixteen (94%) of the remaining 17 patients had residual lymphangioma. Eight (89%) of the 9 patients with tracheotomy underwent decannulation (average duration, 22 months). Ten patients had persistent symptoms, and 6 were asymptomatic. CONCLUSIONS: Involvement of the upper airway seems to be the determining prognostic factor in extensive lymphangioma. Patients with dyspnea by external compression of cervical lymphangioma on the airway responded well to surgery. Aggressive surgical treatment did not seem to significantly improve the prognosis in patients with intrinsic involvement of the upper airway. The natural evolution of untreated massive lymphangioma has not been documented. Less aggressive, symptomatic therapy may be an alternative to avoid mutilating surgery in patients with intrinsic involvement of the airway.

Airway Obstruction↗
PubMed1996

Upper airway obstruction in children with Down syndrome.

OBJECTIVES: To analyze the complex nature of upper airway obstruction (UAO) and the response to surgery in children with Down syndrome. DESIGN: Retrospective medical chart review of all patients with Down syndrome who had UAO during a 5-year period. SETTING: Academic tertiary care children's hospital. PATIENTS: Seventy-one pediatric patients with Down syndrome who had significant UAO. Thirty-four patients had pulmonary artery hypertension; 44 patients had multiple sites of airway obstruction. The obstructive problems included lymphoid hyperplasia, macroglossia, narrow nasopharynx, laryngomalacia, congenital subglottic stenosis, tracheobronchomalacia, and tracheal stenosis. INTERVENTIONS: Children with Down syndrome and UAO underwent surgical procedures including tonsillectomy, adenoidectomy, tonsillar pillar plication, uvulopalatopharyngoplasty, anterior tongue reduction, tonguehyoid suspension, laryngotracheoplasty, and tracheotomy. MAIN OUTCOME MEASURES: Postoperative symptoms found on medical chart review, or parental telephone survey, or both, and results of postoperative diagnostic tests. Patients were grouped as "improved" or having "significant residual symptoms." RESULTS: Twenty-seven of the 55 surgical patients had mild obstructive symptoms, and most improved after tonsil or adenoid surgery, or both. The remaining patients were younger and had more severe symptoms, multiple sites of obstruction, and a high incidence of cardiac disease. Eleven (39%) of the 28 patients in this group had significant residual symptoms after surgery. Four children are tracheotomy-dependent. Five deaths occurred; 3 were attributable to the upper airway. CONCLUSIONS: Upper airway obstruction in children with Down syndrome often is a complex process with multifocal causes. Residual symptoms of airway obstruction are common after surgery. A comprehensive and individualized approach is important in the management of UAO in Down syndrome.

Adenoidectomy↗
PubMed1997

Pulmonary vascular complications of chronic airway obstruction in children.

OBJECTIVE: To study the clinical presentation, treatment, and outcome of pulmonary artery hypertension (PAH) that develops in children with chronic airway obstruction. DESIGN: Case study. SETTING: Academic tertiary care children's hospital. PATIENTS: A 3-year (October 1, 1992, to September 30, 1995) review of the medical records of all children with chronic airway obstruction in whom PAH developed. MAIN OUTCOME MEASURE: The clinical course, including objective laboratory data to measure PAH (cardiac catheterization, echocardiography, electrocardiography) both before and after treatment. RESULTS: Pulmonary artery hypertension developed in 18 patients. It was diagnosed using cardiac catheterization in 13 patients and echocardiography in 5 patients. Obstructive problems include chronic lung disease (9 patients), tracheobronchomalacia (6 patients), adenotonsillar hypertrophy (5 patients), laryngomalacia (4 patients), macroglossia (5 patients), subglottic stenosis (2 patients), and pharyngeal collapse (2 patients). Nine patients were born prematurely and 7 had Down syndrome. Treatments included tracheotomy (7), adenotonsillectomy (5), adenoidectomy (3), laser epiglottoplasty (1), and supplemental oxygen (12). Fourteen patients had documented improvement of PAH as seen from the cardiac catheterization, echocardiography, or electrocardiography findings; in 4 patients, PAH worsened (3 deaths). CONCLUSIONS: Chronic airway obstruction may lead to PAH. In this study, PAH was more likely to develop in premature infants or children with Down syndrome and cardiac anomalies. Surgery or supplemental oxygen will usually improve PAH, but fixed and irreversible PAH developed in patients with the most severe airway disease.

Child, Preschool↗
PubMed1977

Beckwith-Wiedemann syndrome in a mother and her son.

The Beckwith-Wiedemann syndrome--exomphalos, macroglossia and gigantism--occurred in a mother and her son. The clinical and metabolic features of this syndrome are described. We believe this is the first report of this syndrome affecting a mother and her son. An autosomal dominant pattern of inheritance is suggested.

Abnormalities, Multiple↗