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 469 records · Page 26Linked to original sources
PubMed1996

A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].

We present a new case of 11p15 duplication (trisomy 11p15) in a boy (46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)] suffering from Beckwith-Wiedemann syndrome (BWS), whose phenotypically normal father carries a balanced translocation between chromosomes 11 and 21[46,XY, t(11;21)(p15.2;q22.3)]. The paternal grandmother has the same balanced translocation and is also clinically normal. BWS was suspected when the boy was 6 months old because of gigantism, macroglossia, visceromegaly, ear lobe creases and abdominal distention. Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardation). So far, at least eight cases of 11p15 duplication have been described as patients with BWS. In six of these, the duplication was due to inheritance of a translocated or rearranged paternal chromosome. This was also the case in our patient. In the two other previously published cases, the 11p15 duplications were de novo, but in one of these, DNA analysis has subsequently shown that the duplication was of paternal origin. We discuss our observations in relation to the above-mentioned previous cases of 11p15 duplication and the possible role of genomic imprinting in the etiology of BWS.

Beckwith-Wiedemann Syndrome↗
PubMed1990

Respiratory problems in acromegaly.

Death from respiratory causes in acromegaly is three times more common than in the general population and is most often the result of upper airways obstruction, although less commonly pulmonary dysfunction and disturbance of the central nervous system may occur. These factors may be found alone or in combination. Despite several reports of laryngeal involvement, upper airway obstruction in acromegaly is usually regarded as being due to macroglossia and pharyngeal soft tissue hypertrophy. We present four cases of acromegaly in which tracheostomy was required for laryngeal obstruction, with a review of the literature concerning the nature of respiratory problems in acromegaly.

Acromegaly↗
PubMed2006

Beckwith-Wiedemann syndrome: multiple molecular mechanisms.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth condition with an increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal features are abdominal wall defects, macroglossia and gigantism. BWS is generally sporadic; only 10-15% of cases are familial. A variety of molecular aberrations have been associated with BWS. The only mutations within a gene are loss-of-function mutations in the CDKN1C gene, which codes for an imprinted cell-cycle regulator. CDKN1C mutations appear to be particularly associated with umbilical abnormalities, but not with increased predisposition to Wilms' tumour. In the remaining BWS subgroups, a disturbance of the tight epigenetic regulation of gene expression (patUPD 11p, microdeletions or epimutations) seems to be the cause of the syndrome. Here we describe the clinical presentation of BWS and its dissociation from phenotypically overlapping overgrowth syndromes. We then review the current concepts of causative molecular genetic and epigenetic mechanisms, and discuss future directions of research.

Animals↗
PubMed2000

[Surgical options for treatment of snoring and sleep apnea].

Simple snoring and obstructive sleep apnea are part of a complex disease process with a high prevalence. Surgical treatment options have been developed by otolaryngologists over the last decades. Knowledge of different surgical procedures is required to address the various findings during preoperative assessment. Patients with nasal airway blockage due to septal deviation, large turbinates or polyps may benefit from endonasal surgery. Obstructive tonsils, palatal webbing, and an enlarged uvula require surgical approaches including the soft palate and tonsils. The controversy on indications and contraindications for the standard uvulopalatopharyngoplasty, laser-assisted uvulopalatoplasty and the use of radiofrequency is still ongoing. Dysgnathia may require maxillofacial surgery and macroglossia may be treated with reductive surgery of the tongue. Narrowing of the posterior airway space at the level of the tongue base may be addressed by advancement of the bony insertion of the genioglossus muscle and suspension of the hyoid. A new procedure is the suspension of the tongue with a non-resorbable suture fixed to a mandible anchored screw. Our first promising results need to be re-evaluated over time.

Electrosurgery↗
PubMed1999

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

The recessive autosomal disorder known as ICF syndrome (for immunodeficiency, centromere instability and facial anomalies; Mendelian Inheritance in Man number 242860) is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. Mild facial anomalies include hypertelorism, low-set ears, epicanthal folds and macroglossia. The cytogenetic abnormalities in lymphocytes are exuberant: juxtacentromeric heterochromatin is greatly elongated and thread-like in metaphase chromosomes, which is associated with the formation of complex multiradiate chromosomes. The same juxtacentromeric regions are subject to persistent interphase self-associations and are extruded into nuclear blebs or micronuclei. Abnormalities are largely confined to tracts of classical satellites 2 and 3 at juxtacentromeric regions of chromosomes 1, 9 and 16. Classical satellite DNA is normally heavily methylated at cytosine residues, but in ICF syndrome it is almost completely unmethylated in all tissues. ICF syndrome is the only genetic disorder known to involve constitutive abnormalities of genomic methylation patterns. Here we show that five unrelated ICF patients have mutations in both alleles of the gene that encodes DNA methyltransferase 3B (refs 5, 6). Cytosine methylation is essential for the organization and stabilization of a specific type of heterochromatin, and this methylation appears to be carried out by an enzyme specialized for the purpose.

Alleles↗
PubMed1997

Dialysis-related amyloidosis of the tongue in long-term hemodialysis patients.

Dialysis-related amyloidosis (DRA) predominantly occurs in the osteoarticular structures. However, according to studies in the increasing number of long-term hemodialysis patients, DRA has also been systemically found to appear in the other tissues and organs as well. In this study, we investigated lingual amyloidosis in relation to systemic DRA. A total of 472 patients were studied who were on regular hemodialysis for more than 10 years, including 103 patients for more than 20 years. Eight of these patients (7 males and 1 female, mean age 59 +/- 8 years, range 46 to 68 years) developed lingual amyloidosis, seemingly as a result of beta2-microglobulin (beta2m) deposits. All patients demonstrating lingual amyloidosis had been treated with regular hemodialysis for more than 20 years (mean HD duration 23.6 +/- 1.4 years), and its morbidity was 7.8% in the 103 patients and 20% (6 patients) in the 30 patients treated for more than 23 years with hemodialysis. Hemodialysis (HD) duration with bioincompatible unsubstituted cellulose membranes in the 8 patients was longer than that in the control group without lingual amyloidosis (P < 0.05). Lingual amyloid nodules were whitish-yellow in color and varied in size, at least over 1 mm in diameter. Their consistency was firmer than the intact tongue. The location of the amyloid nodules could be classified into two types: (1) diffuse type (diffusely distributed over the tongue), and (2) lateral type (localized only in the lateral side of the tongue). Five of the eight patients with lingual amyloidosis complained of functional disturbances in the tongue, such as abnormal taste, or difficulty in mobility and articulation. No macroglossia was observed in any of these cases. It was thus concluded that DRA of the tongue is a very rare complication, occurring in the late stage of long-term hemodialysis patients, that disturbs their quality of life.

Adult↗
PubMed2000

Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndrome.

The sleep apnoea/hypopnoea syndrome (SAHS) is characterized by repeated upper airway narrowing or collapse during sleep. The obstruction is caused by the soft palate and/or base of tongue collapsing against the pharyngeal walls because of decreased muscle tone. These episodes are accompanied by hypoxaemia, surges in blood pressure, brief arousal from sleep and pronounced snoring. Individuals with occult disease are at heightened risk of motorway accidents because of excessive sleepiness, sustained hypertension, myocardial infarction, and stroke. The signs and symptoms of SAHS may be recognisable in the dental practice. Common findings in the medical history include daytime sleepiness, snoring, hypertension, and type 2 diabetes mellitus. Common clinical findings include male gender, obesity, increased neck circumference, excessive fat deposition in the palate, tongue (macroglossia) and pharynx, a long soft palate, a small recessive mandible and maxilla, and calcified carotid artery atheromas on panoramic and lateral cephalometric radiographs. Dentists who recognise these signs and symptoms have an opportunity to diagnose patients with occult SAHS. After confirmation of the diagnosis by a physician, dentists can participate in the management of the disorder by fabricating mandibular advancement appliances that enlarge the retroglossal space by anterior displacement of the tongue and performing corrective upper airway surgery that prevents recurrent airway obstruction.

Adult↗
PubMed2005

Low grade multiple myeloma that presented as a labial swelling -- a case report.

Myeloma is a disease of the bone marrow in which there is malignant proliferation of plasma cells. Myeloma is usually associated with the accumulation of a monoclonal immunoglobulin or light chains in plasma and subsequently an increase in light chains in the urine (Bence-Jones proteins). Renal failure can occur and bone destruction in the axial skeleton may ensue with pain and fractures. Amyloidosis associated with multiple myeloma is a relatively common finding. The most frequently reported oral sign of amyloidosis is macroglossia. There are numerous cases in the literature of amyloid deposition in tongues related to multiple myeloma. However, none of these cases describe amyloid deposition surrounding arteries in the oral cavity. We therefore report a case of an innocuous lower labial swelling, which subsequently led to the diagnosis of amyloid deposition surrounding an artery, the cause of which was later shown to be multiple myeloma.

Aged↗
PubMed2003

Ultrasound-guided radiofrequency submucosal tongue-base excision for sleep apnoea: a preliminary report.

Surgery for sleep apnoea is challenging, particularly in patients with macroglossia. This has led us to develop a new procedure for reduction of the tongue base with low morbidity. Two types of bipolar radiofrequency probe were used via a percutaneous approach under an aseptic technique and general anaesthesia on 15 consecutive patients with retropalatal and retrolingual collapse. The lingual neurovascular bundles and probe were simultaneously identified with intraoperative real-time ultrasound to prevent neurovascular damage, and five patients had additional tongue mucosal suture advancement. All patients had previous or concurrent palatal surgery. The increase in cephalometric (retrolingual) posterior airspace (PAS) was 4 mm with a Spinevac wand and mucosal suture advancement, which is comparable to current-staged monopolar radiofrequency protocols requiring treatment for up to 6 months. Overall, 40% polysomnographic success was achieved, but it was 80% when additional phase 1 procedures were used. Morbidity was minimal with careful adherence to the perioperative care protocol.

Adult↗
PubMed2003

Anaesthetic implications of Costello syndrome.

Costello syndrome is a disorder that primarily involves ectodermal tissues and is characterized by mental and growth retardation, distinctive coarse facies, redundant skin (neck, palms and soles), and papillomata (perioral, nasal and anal). Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal papillomata and choanal atresia. A significant percentage of patients also have cardiac involvement which may manifest as congenital heart defects, arrhythmias, valvular dysfunction, or hypertrophic cardiomyopathy. Central nervous system involvement includes developmental delay and seizure disorders while endocrine abnormalities have been reported including hypothalamic-pituitary dysfunction resulting in hypopituitarism, hypothyroidism, and hypoadrenalism. The authors present a 2-year old child with Costello syndrome who required anaesthesia for direct laryngoscopy, rigid bronchoscopy, bilateral pressure equalization tubes and tonsillectomy. The perioperative implications of the syndrome are discussed.

Abnormalities, Multiple↗
PubMed1997

Development of the fetal tongue between 14 and 26 weeks of gestation: in utero ultrasonographic measurements.

Our objective was to establish nomograms for fetal tongue measurements from 14 weeks until mid-gestation by using transvaginal and transabdominal high-resolution ultrasound techniques. A prospective, cross-sectional study was performed on 120 normal singleton pregnancies between 14 and 26 weeks of gestation. Tongue circumference was measured by transvaginal ultrasonography between 14 and 17 weeks, and by abdominal ultrasound between 18 and 26 weeks of gestation. Fetal tongue circumference, as a function of gestational age, was expressed by the regression equation: tongue circumference (mm) = -23.9 + 3.75 x gestational age (weeks). The correlation, r2 = 0.95, was found to be highly statistically significant (p < 0.0001). The normal mean of tongue circumference per week and the 95% prediction limits were defined. During the study period we evaluated two cases with tongue circumference outside these 95% confidence limits: one had microglossia, the other macroglossia, and both were found to be associated with abnormal fetal karyotype. The presented normative data may be helpful in the prenatal diagnosis of suspected congenital syndromes that include, among their manifestations, tongue growth disturbances.

Female↗
PubMed2000

Prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. Echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. Color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.

Adult↗
PubMed2002

Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities.

A case of prenatal diagnosis of de novo mosaic deletion of the long arm of chromosome 13 (del(13)(q13.3)) is presented. Routine scanning in a 27-year-old primigravida at 25 weeks' gestation showed fetal bilateral hydronephrosis. Detailed anomaly scanning in our tertiary referral center further demonstrated posterior meningoencephalocele, sloping forehead, microcephaly, syndactyly and hypoplastic thumbs. Both genetic amniocentesis and cordocentesis revealed a mosaic karyotype, 46,XY/46,XY,del(13)(q13.3). Sonographic findings were confirmed by postmortem autopsy and additional abnormalities such as agenesis of corpus callosum, hypoplastic cerebellum and macroglossia were diagnosed. Detailed sonography in this case thus revealed multiple malformations that prompted fetal karyotyping at 25 weeks' gestation.

Abnormalities, Multiple↗
PubMed1999

Insulin-mediated pseudoacromegaly in a patient with severe insulin resistance: association of defective insulin-stimulated glucose transport with impaired phosphatidylinositol 3-kinase activity in fibroblasts.

The purpose of this study was to clinically and biochemically describe an insulin resistant patient with insulin-mediated pseudoacromegaly and in addition, to examine the molecular cause responsible for the defective insulin-stimulated glucose transport in cultured fibroblasts derived from the patient. The patient was a 64 year old female with severe insulin resistant diabetes mellitus, requiring up to 200 U insulin per day, associated with typical acromegaloid characteristics including increased hand and foot size, macroglossia and development of coarse facial features. Pituitary magnetic resonance imaging as well as multiple GH and IGF-1 measurements were normal. In cultured fibroblasts derived from the patient, (i) insulin-stimulated glucose transport, (ii) the subcellular distribution of GLUT1 glucose transporters, (iii) insulin-stimulated IRS-1-immunoprecipitable phosphatidylinositol (PI) 3-kinase activity, as well as (iv) protein expression of the small GTP-binding protein Rab4 was determined. The results indicate, that insulin's ability to stimulate glucose transport is defective in the patients fibroblasts although the GLUT1 content in the plasma membrane was increased by 34% when compared to control cells. Furthermore, the IRS-1 dependent activation of PI 3-kinase was reduced by 39.6% after incubation with 10 nM insulin for 5 min. Interestingly, immunodetection of the small GTP-binding protein Rab4, which is believed to be involved in the regulation of glucose transporter vesicle targeting to the plasma membrane, revealed a marked reduction of the expression of Rab4 protein in a total membrane fraction by 57.4%. In conclusion, in fibroblasts of a patient with clinical and biochemical evidence of pseudoacromegaly, the defective insulin-stimulated glucose transport was associated with impaired insulin-stimulated PI 3-kinase activity, which may contribute to the severe insulin resistant state of this patient.

Acromegaly↗
PubMed1998

[Surgical ENT therapy of oropharyngeal amyloidosis].

BACKGROUND: The term "amyloidosis" refers to a disturbance of metabolism with a pathological deposit of extracellular protein. There are two types of amyloidosis, both of which can have oropharyngeal manifestations. The amyloid deposits cause dysfunction of affected tissues and could result in a life-threatening obstruction of neighbouring organs or the upper aerodigestive tract. CASE REPORT: The present paper reports about the symptoms, diagnosis, and surgical treatment of oropharyngeal amyloidosis. The possible life-threatening obstruction of the upper aerodigestive tract by amyloidosis is illustrated in a case report. CONCLUSIONS: Surgical treatment is indicated in cases of amyloid caused obstruction of the upper aerodigestive tract. The transoral approach combined with a laser surgical tissue resection is often not efficient where diffuse amyloid muscular deposits are present in the form of macroglossia with induration of the floor of the mouth. An effective surgical treatment of oropharyngeal amyloidosis consists of suprahyoid pharyngotomy with a partial tongue resection and a supplementary reduction of the induration of the floor of the mouth.

Airway Obstruction↗
PubMed1989

Prenatal diagnosis and perinatal management of the Beckwith-Wiedeman syndrome: a case and review.

In utero diagnosis of Beckwith-Wiedeman syndrome was made after sonographic identification of an omphalocele and organomegaly in a term fetus. Although not all possible criteria for diagnosis could be antenatally confirmed, the finding of an anterior wall defect associated with macrosomia and possible macroglossia made it very likely. This enabled us to counsel the patient properly and to prepare adequate neonatal support at delivery.

Beckwith-Wiedemann Syndrome↗
PubMed2003

Anatomy of oral respiration: morphology of the oral cavity and pharynx.

The anatomical states of the oral cavity and pharynx during mouth breathing in children with adenoid hypertrophy and in adults confirmed the speculation that mouth breathing is disadvantageous compared with nose breathing. In addition, comparison of the anatomical state between wakefulness and sleep in normal adults showed slight depression of the tongue root and slight narrowing of the oropharynx and hypopharynx during sleep. Obstructive sleep-disordered breathing occurs due to a variety of factors, such as paranasal sinus disease, tonsil and adenoid hypertrophy, hypertrophy and morphological abnormalities of the soft palate and palatine uvula, low-set soft palate, micrognathia, macroglossia, obesity and tongue root depression. Narrowing or obstruction of the middle pharynx and hypopharynx is more marked in patients with obstructive sleep-disordered breathing than in normal people and is especially marked during sleep. Therefore, morphological (i.e. anatomical) changes during mouth breathing may provide useful information for evaluating the pathology of snoring and sleep apnea.

Adenoids↗
PubMedDate not supplied

"Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome.

The Wiedemann-Beckwith syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele. Histologic studies of WBS show nesidioblastosis of the pancreas, adrenocortical cytomegaly, and persistent metanephric blastema of the kidney. Multiple lines of evidence indicate that the human 11p15.5 region is the locus of abnormality in WBS. Insulin-like growth factor II (IGF-2) frequently has been considered a candidate gene, and expression of IGF-2 is known to be significantly delayed in fetal skeletal muscle of double-muscle (DM) cattle. Other candidate genes recently have been proposed for WBS. A number of recessive alleles in the bovine myostatin gene (GDF8, mapped to bovine chromosome 2 and apparently orthologous to the human 2q22 region) have been shown to be responsible for DM. Recently the first human case of deficient GDF8 function has been reported, confirming the importance of this gene. Bovine IGF-2 has been sequenced and localized to chromosome 25. The primary purpose of this study was to compare and contrast histologic findings in DM and WBS. Immunohistochemical staining confirms changes similar to nesidioblastosis in the pancreas. Other dysplastic changes of a cystic nature are seen in the adrenal. The renal histology of DM fetuses did not appear significantly different than controls.

Adrenal Cortex↗