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PubMedDate not supplied

Oral findings in a typical case of achondroplasia.

We report a 16-year-old boy who had all the typical manifestations of achondroplasia but also had a skeletal and dental class III malocclusion, a narrow maxilla, macroglossia and an open bite between the posterior teeth. The narrow maxilla and bilateral cross-bite were treated with rapid palatal expansion. The open bite and irregular teeth were corrected with fixed orthodontic treatment, taking account of the macroglossia. This case is of clinical interest since dental class III malocclusion, posterior open bite, macroglossia and benign migratory glossitis have not previously been reported in achondroplasia.

Achondroplasia↗
PubMed1999

Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus.

Two patients who presented at birth with neonatal diabetes mellitus (NDM) are described: one with paternal uniparental disomy for chromosome 6 and one with normal, biparental inheritance. The first child presented with low birth weight, macroglossia, hypertelorism, and club foot in addition to NDM. In this patient hyperglycemia was transient, and insulin treatment was discontinued at 4 months of age. The second child also presented with low birth weight but was normal in appearance, and insulin dependence continues after 5 years. Genetic analysis with polymorphic DNA markers for chromosome 6 indicated the presence of paternal uniparental disomy (UPD) in the first case and normal, biparental inheritance in the second case. Paternal UPD 6 has been reported in 8 previous cases of which 6 showed NDM. Three cases with paternal UPD 6 also included additional anomalies, such as macroglossia, not usually associated with NDM. Therefore the simultaneous finding of NDM and macroglossia should be a strong indicator for genetic testing. The genetic finding of paternal UPD 6 allows prediction of a transient, rather than permanent, form of diabetes mellitus and no increased recurrence risk of transient NDM in subsequent pregnancies.

Aneuploidy↗
PubMedDate not supplied

Computed tomography of the tongue in primary amyloidosis.

Primary amyloidosis is a systemic disease that may cause diffuse enlargement of the tongue or macroglossia. Obvious macroglossia is easily detected by clinical inspection. There is no agreement, however, on an objective measure of tongue enlargement. Computed tomography of the base of the tongue was performed in 12 patients with primary amyloidosis. Tongue width and width of the hyoglossus and genioglossus muscles were measured. Based on normal measurements it was concluded that macroglossia is present if the tongue is wider than 50 mm and the genioglossus wider than 11 mm. This should be accompanied by a midline cleft of the tongue surface and outward displacement of normal-size submandibular glands.

Aged↗
PubMed2004

Causes of persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy in children with down syndrome as depicted on static and dynamic cine MRI.

OBJECTIVE: Our purpose was to evaluate the causes of persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy in children with Down syndrome as depicted on cine MRI. MATERIALS AND METHODS: Cine MRI studies performed to evaluate persistent obstructive sleep apnea despite previous tonsillectomy and adenoidectomy were reviewed. MRI was performed under sedation and included cine MR images (fast gradient-echo) obtained in the midline sagittal plane and in the axial plane at the base of the tongue and T1-weighted spin-echo and fast spin-echo inversion recovery images in the axial and sagittal planes. Imaging parameters reviewed included static and dynamic diagnoses made, frequency of recurrence and diameter of tonsillar tissue, and tongue morphology. RESULTS: Twenty-seven patients were identified (mean age, 9.9 years). Diagnoses included glossoptosis in 17 patients (63%), hypopharyngeal collapse in six (22%), recurrent and enlarged adenoid tonsils in 17 (63%), enlarged lingual tonsils in eight (30%), and macroglossia in 20 (74%). Of the 20 patients with macroglossia, 11 (55%) had absence of the normal median sulcus and 12 (60%) had evidence of fatty infiltration of the tongue musculature. CONCLUSION: Persistent obstructive sleep apnea in children with Down syndrome who have undergone previous adenoidectomy and tonsillectomy has multiple causes. The most common causes include macroglossia, glossoptosis, recurrent enlargement of the adenoid tonsils, and enlarged lingual tonsils.

Adenoidectomy↗
PubMed1989

[A pathological consideration of ankyloglossia and lingual myoplasty].

Despite the curious role of tongue in the development of oro-facial structures the tongue remains as rather quiescent organ without bony skeleton. But it is said that neuro-muscular complex of tongue is important in the developmental and functional process. Ankyloglossia and macroglossia are occasionally implicated in the oral diseases. Many authors supposed that the ankyloglossia and macroglossia might produce various abnormal oro-facial growth, such as bimaxillary or mandibular protrusion and anterior open bite, etc. We have designed the classification of ankyloglossia by measuring the median lingual frenum length with lingual frenum ruler. It is well known that every people has a lingual frenum to some degree. So we analyse that the group showing less than 10mm of median frenum length is belong to mild ankyloglossia, the group showing from 10mm to 15mm of median frenum length is belong to moderate ankyloglossia, the group showing more than 15mm of median frenum length is belong to type 1 severe ankyloglossia, and the group showing clinically severe ankyloglossia but having less than 15mm of median frenum length is belong to type 2 severe ankyloglossia. We have experienced that the mild ankyloglossia usually causes no clinical complication to receive dental treatments. In the present study we investigated different clinical complications under this classification. We also recognized that the most retracted tongue position is a comparable criterion of tongue movement. The severer ankyloglossia showing thick lingual frenum is the more frequently associated with macroglossia and occlusal disharmony, and its most retracted tongue position is prone to locate high-anterior direction. Among 130 cases receiving lingual myoplasty 106 cases (81.5%) showed various malocclusions, 37 cases (28.5%) showed conspicuous speech problem, and 14 cases (19.8%) showed severe oro-facial deformity. The lingual myoplasty consists of two steps, the first is the same with frenectomy, and the second is the procedure of re-equilibrium of extrinsic tongue muscles mainly between genioglossus muscle and hyoglossus muscle. 130 cases which were belong to the group of moderate and severe ankyloglossia were selected for the lingual myoplasty, and the patients were ordered to keep on self training by the method of Dr. Lim's tongue movement. In three months after lingual myoplasty there was no relapse of ankyloglossia and the most retracted tongue position changed to inferior and posterior direction effectively (Tab. 6, 7, 8), and on gross finding the size of tongue seems to be decreased.(ABSTRACT TRUNCATED AT 400 WORDS)

Humans↗
PubMedDate not supplied

Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery.

Beckwith-Wiedemann syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia. Several reported cases of this syndrome have been prenatally diagnosed, but no report has described the occurrence of this syndrome in association with a single umbilical artery. We report a case in which prenatal sonographic examination demonstrated fetal overgrowth, macroglossia, and omphalocele together with a single umbilical artery; our prenatal diagnosis of Beckwith-Wiedemann syndrome was confirmed after birth of the infant. The possibility of this syndrome should be considered when performing a detailed sonographic examination of a fetus with a single umbilical artery.

Adult↗
PubMed1999

[Amyloidosis of the tongue as a possible diagnostic manifestation of plasmacytoma].

Plasmocytic non-Hodgkin's lymphoma is the most common tumor of bone and bone marrow, typically diagnosed by symptoms such as monoclonal paraproteinemia, proteinuria, anemia and hypercalcemia. In its progress, deposits of amyloids in almost all organs can be observed. However, plasmacytomas which are diagnosed by macroglossia of primarily unknown etiology are rare. This case report presents a 61-year-old woman who suffered from a persistent swelling of the tongue with painful ulcerations. A biopsy led to the diagnosis of primary systemic amyloidosis of the light-chain type, which subsequently proved to be a plasmacytoma with lambda light-chains stage II after Durie and Salmon. In the course of the disease the patient developed further deposits of amyloids in the whole gastro-enteric system. Macroglossia as a primary manifestation of plasmacytoma is rarely described in medical literature. However, reports on deposits of amyloid in the tongue in advanced stages of disease are well known.

Amyloidosis↗
PubMed2005

Assessment of obstructive apnea by using polysomnography and surgical treatment in patients with Beckwith-Wiedemann syndrome.

PURPOSE: Obstructive apnea is sometimes seen in patients with Beckwith-Wiedemann syndrome. The cause of apnea is not limited to macroglossia, and the surgical indication for obstructive apnea has not yet been established. The authors performed polysomnography for the assessment of apnea. METHOD: Overnight polysomnograms were obtained in 2 patients who developed obstructive apnea after 1-stage repair for omphalocele. CASE 1: Apnea index (AI), defined as apneic events per hour, indicated 17.3, and SpO2 below 95% occupied 80% of the total sleep time. Computed tomography and magnetic resonance imaging indicated obstruction of the airway between macroglossia and the hypopharynx. Central tongue resection and the division of the frenulum linguae for associated ankyloglossia were performed 97 days after birth. One month after surgery, apneic events disappeared and SpO2 below 95% occupied only 1% of the total sleep time. CASE 2: Obstructive AI indicated 28.1. Division of the frenulum linguae and anterior glossopexy were performed 55 days after birth. Postoperative polysomnogram indicated a marked reduction of AI. CONCLUSIONS: These results indicated that polysomnography was useful for evaluating obstructive apnea and that advancement of the tongue by division of the frenulum linguae may be recommended for the treatment of obstructive apnea in patients with Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann Syndrome↗
PubMed2002

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.

Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients of non-Finnish origin. To date, only three patients with AGU have been reported with cutaneous lesions of ACD. A 19-year-old Spanish woman presented with a 10-year history of progressive ACD affecting the limbs, buttocks and trunk. After the age of 6 years she had developed progressive mental deterioration, coarse facies and macroglossia with a scrotal appearance. Peripheral blood smears showed many vacuolated lymphocytes. Enzyme analysis in cultured fibroblasts revealed a decreased activity of aspartylglucosaminidase. By the age of 31 years the patient had developed a bipolar psychosis, polycystic ovarian disease and severe impairment of cognitive skills. This is the first case of AGU detected in a Spanish patient presenting with cutaneous lesions of ACD. To our knowledge, macroglossia with a scrotal appearance and polycystic ovarian disease have not been reported in previous cases of AGU.

Acetylglucosamine↗
PubMed2002

Amyloidosis of the tongue as a paraneoplastic marker of plasma cell dyscrasia.

OBJECTIVE: Our objective was to study the results of the medical workup in patients with amyloidosis of the oral cavity. STUDY DESIGN: Patients diagnosed with amyloidosis of the oral cavity during the period from January 1971 to January 2001 at the Departments of Oral and Maxillofacial Surgery/Oral Pathology and Dermatology of the VU University Medical Center, Amsterdam, The Netherlands, were included in this retrospective case study. In total, this series comprised 11 patients, 9 women and 2 men. The patients' medical workup and final diagnoses were traced by means of the medical records. RESULTS: All but one patient presented with amyloidosis of the tongue, most of them manifesting as macroglossia. In 7 of the 11 included patients a diagnosis of myeloma could be established shortly after their referral to the above-stated departments. Three of the 4 remaining patients appeared to have a monoclonal gammopathy of undetermined significance, and 1 patient was diagnosed with a lymphoplasmacytoid non-Hodgkin lymphoma (immunocytoma). CONCLUSIONS: Amyloidosis of the oral cavity predominantly involves the tongue, mainly manifesting as macroglossia. Amyloidosis of the tongue is associated with an occult underlying plasma cell dyscrasia, in particular myeloma, and, therefore, should be regarded as a paraneoplastic phenomenon of these hematologic diseases.

Aged↗
PubMed1979

Beckwith-Wiedemann's syndrome--a report of an autopsied case--.

The case presented here is a three-month-old male infant with the Beckwith-Wiedemann's syndrome. Clinically, the patient was characterized by macroglossia, visceromegaly, umbilical hernia, microcephalus and other multiple malformations such as facial flame nevus or ear lobe grooves. The patient died of bronchopneumonia at the age of three months, and an autopsy was performed. Morphological examination revealed adrenal cytomegaly, hyperplasia and hypertrophy of the pancreatic islets, adrenal rest tissue in the right testis or hypertrophy of muscle fibers of the tongue associated with fibrous degenerative change, in addition to bronchopneumonia of the lung, causing his death. On electron microscopical examination, the cytomegalic cell of the adrenal was characteristic of large pleomorphic nucleus and granular substances with high density in the cytoplasm. In this case, thorough histologic search revealed no evidence of tumorous growth in the organs, though the exomphalos-macroglossia-gigantism syndrome has been of interest in its relationship to the occasional occurrence of Wilms tumor, adrenal carcinoma or other tumors.

Abnormalities, Multiple↗
PubMedDate not supplied

Oral manifestations of Beckwith-Wiedemann syndrome.

A report of case of a patient with Beckwith-Wiedemann syndrome is presented. The macroglossia associated with the syndrome necessitated long-term dental follow-up to prevent and treat problems with occlusion, speech, and esthetic appearance that might develop. Early intervention might be required if feeding or respiratory difficulties, resulting from the macroglossia, arise. The diagnosis of the syndrome should alert the dentist to the increased incidence of intra-abdominal malignancies and the need for periodic observation.

Beckwith-Wiedemann Syndrome↗
PubMed2001

Bilateral carpal tunnel syndrome as a clue for the diagnosis of systemic amyloidosis.

A 60-year-old Swiss woman presented with a 1-year history of periorbital hemorrhagic papules, a tendency to develop hematoma due to minor trauma and shortness of breath. The personal medical history included surgery for bilateral carpal tunnel syndrome (CTS) 2 years ago. Clinical and laboratory findings included macroglossia, Bence-Jones proteinuria, reticular lung infiltrates, thickening of the ventricular walls in echocardiography and increase in atypical plasma cells in the bone marrow. The coexistence of the specific symptoms of CTS, macroglossia and cutaneous lesions should immediately alert the physician to the probable existence of plasma-cell-dyscrasia-related systemic amyloidosis.

Amyloidosis↗
PubMed1976

Lymphangioma circumscriptum of the tongue.

A case is reported of severe transient macroglossia after biopsy from the tongue in a 13-year-old boy who has had intermittent macroglossia since the age of 1 year as a result of extensive lymphangioma circumscriptum of the tongue. The acute lesions appear to result from haemorrhage into the lymphatic spaces following rupture of blood vessels in connective tissue septa and possibly secondary infection.

Acute Disease↗
PubMedDate not supplied

Fetal facial defects: associated malformations and chromosomal abnormalities.

During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48%) with cleft lip and palate, in 5 of 11 (45%) with severe hypotelorism or cyclops, and in 6 of 19 (32%) with nasal hypoplasia, proboscis or single nostril. Macroglossia was mainly associated with trisomy 21, micrognathia with trisomy 18 and triploidy, facial cleft with trisomies 13 and 18, and ocular or nasal defects with trisomy 13. In all chromosomally abnormal fetuses with facial defects, there were additional multisystem defects, and the pattern of these malformations was compatible with the type of the underlying chromosomal abnormality. In the total series of 2,086 fetuses with malformations and/or growth retardation, there were 31 with trisomy 13, 83 with trisomy 18 and 69 with trisomy 21; facial defects were found in 71, 36 and 14% of these fetuses, respectively.

Abnormalities, Multiple↗
PubMed2006

Submucosal minimally invasive lingual excision: an effective, novel surgery for pediatric tongue base reduction.

OBJECTIVES: The aim of this study was to develop an effective single intraoral, minimally invasive technique to reduce the enlarged tongue base in children with obstructive macroglossia. METHODS: We present the anatomic dissection of fresh cadavers and a representative case series of children who underwent submucosal minimally invasive lingual excision (SMILE) with a plasma-mediated radiofrequency device (coblation) under intraoral ultrasonic and endoscopic guidance. Multiple anatomic dissections determined the relative location of the hypoglossal nerve and lingual neurovascular bundle in relation to removable tongue base musculature. A pediatric case series demonstrates the straightforward SMILE technique. RESULTS: Laboratory anatomic dissection and clinical lingual ultrasonography revealed the surgical safety borders for SMILE. The surgical safety and efficacy of SMILE is demonstrated by preoperative and postoperative clinical examinations and polysomnograms in children with obstructive macroglossia (such as Beckwith-Wiedemann and Down syndromes and tongue vascular malformation). Coblation submucosally removes excessive tongue base tissue through a small anterior tongue incision. SMILE was performed without excessive pain, bleeding, edema, infection, or tongue dysfunction. CONCLUSIONS: SMILE is an effective novel operation that incorporates coblation with ultrasonography and endoscopic guidance for children who need tongue base reduction. Anatomic dissection and clinical cases demonstrate the potential for aggressive yet relatively safe tissue removal by this minimally invasive technique. SMILE also has significant potential for adults with obstructive sleep apnea due to a large tongue base.

Adolescent↗
PubMed2005

Cleft palate and Beckwith-Wiedemann syndrome.

OBJECTIVE: Patients with Beckwith-Wiedemann syndrome suffer numerous anomalies, which vary somewhat from case to case. Cleft palate in combination with this syndrome has rarely been reported in the literature. Through two cases, this report examines the staging of the surgical repairs and the role of macroglossia in cleft palate and the consequences of the scarred palate on mandibular development. RESULTS: Of four patients with Beckwith-Wiedemann syndrome, only two had a cleft palate. The timing of the repair in these two children was different. Speech development was satisfactory in the first case but mediocre in the second. This result seemed to be related to a poor social environment. Mandibular prognathism persisted in both cases. CONCLUSION: The treatment of patients with cleft palate and Beckwith-Wiedemann syndrome remains complex. It is preferable not to operate on a cleft palate before performing a tongue reduction plasty, but rather to combine these two surgical interventions. This would reduce the risks of anesthesia and enable the palate to heal more efficiently. Surgical treatment should be performed after the age of 6 months and before problems in speech development occur. An orthognathic surgery at adolescence could be performed if prognathism persists. While the origin of the cleft palate is still being discussed, we cannot claim that macroglossia is related to the development of cleft palate, nor that the scarred palate has an impact on the mandibular development.

Adult↗
PubMed1979

[Plastic surgery in mongoloid children].

The aim of plastic surgery in children with Down-syndrome is the improvement of speech as well as improvement of cosmetic appearance. Altering the typical mongoloid physiognomy facilitates the integration of these children into the community. In our Department during the past 6 months plastic surgery was performed in 27 children for the correction of macroglossia, saddle nose deformity, epicanthic folds, receding chin, fatty neck and deformity of the ears. Macroglossia was present in every case, the extent of further surgery varies according to the clinical deformity. It is essential to discuss the implications of surgery in these children with the parents in order to avoid later disappointment.

Child↗