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PubMed2004

Genotype/phenotype analysis in a patient with pure and complete trisomy 12p.

Reports on patients with pure and complete trisomy 12p are rare. Up to now, 12 cases have been described in the literature. Here, we report on the genotype/phenotype-correlation of a female patient with a pure trisomy 12p. Conventional cytogenetic studies on peripheral blood chromosomes as well as molecular cytogenetic (fluorescence in situ hybridization, FISH) techniques including whole chromosome painting (WCP), comparative genomic hybridization (CGH), multicolor-banding (MCB) detected a female karyotype with an abberant chromosome 12:46,XX,der(12).ish dup(12)(pter --> q24.3::p11.2 --> pter). In addition to the trisomy 12p specific clinical hallmarks, the patient showed some features of Pallister-Killian syndrome (PKS) such as sparse hair, macroglossia, and epilepsy. These findings contribute to the genotype/phenotype correlation in trisomy 12p patients.

Abnormalities, Multiple↗
PubMed2005

Prenatal diagnosis of Beckwith-Wiedemann syndrome.

OBJECTIVES: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. METHODS: Published reports obtained from Medline searches were reviewed and combined with our cases. RESULTS: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. CONCLUSION: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

Adrenal Cortex↗
PubMed2001

Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.

Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene at Xq26, one member of a multigene family encoding for at least six distinct glycosylphophatidylinositol-linked cell surface heparan sulfate proteoglycans. As a class of molecules, heparan sulfate proteoglycans have been found to play essential roles in development by modulating cellular responses to growth factors and morphogens. Specifically, mutations in both the murine GPC3 gene and the Drosophila glypican, dally, have been found to modify cellular responses to bone morphogenetic proteins, providing important clues to the molecular basis of SGBS in humans. Despite these advances, there remains a paucity of information about the natural history of SGBS and optimal medical management strategies, and whether select mutations influence the SGBS phenotype and risk of cancer. To this end, an International SGBS Registry has been created and is being maintained to improve the clinical care and understanding of the pathogenesis of SGBS. Using an integrated approach employing epidemiology, molecular genetic characterization of specific GPC3 mutations, and the use of model organisms should rapidly expand the understanding of this complex disorder.

Abnormalities, Multiple↗
PubMed1998

Amyloidosis mimicking rheumatoid arthritis.

A 49-year-old man presented a clinical picture suggesting seronegative rheumatoid arthritis. He developed severe joint contractions, pasty synovial swelling, macroglossia and proteinurie. Subsequent investigations disclosed light-chain multiple myeloma and A1-amyloid deposits in synovial tissue and skin. A1-amyloidosis should be considered in the differential diagnosis of patients with seronegative polyarthritis. Clues to the diagnosis of amyloid arthropathy are a carpal tunnel syndrome, early occurrence of joint contractures in combination with a relatively mild synovitis and a low ESR as well as the presence of other possible organ involvement with amyloidosis.

Amyloidosis↗
PubMed1986

Anaesthesia for the achondroplastic dwarf.

Over the past three years, 36 anaesthetics were administered to 27 patients with achondroplastic dwarfism. Twenty-four patients underwent craniectomy for foramen magnum stenosis. Sixteen of the operations were undertaken in the sitting position with nine incidents of venous air embolism (VAE), all of which occurred in patients under 12 years of age. Six major complications occurred: two C-1 level spinal cord infarctions, two brachial plexus palsies, one severe macroglossia, and one accidental extubation. Intravenous access in the small child with achondroplastic dwarfism is made difficult because of the excess, lax skin and subcutaneous tissue. Airway management and laryngoscopy were not difficult and we found that endotracheal tube size was best predicted by the patient's weight and not age. Blood loss was 38 +/- 9 mg X kg-1 in the prone position (n = 8) and 18 +/- 4 mg X kg-1 in the sitting position (n = 16), and was related to the surgical procedure rather than to dwarfism. Our data indicate that complications are more likely to occur in the sitting position, and that these complications are of a serious nature, and every precaution should be taken to avoid their occurrence.

Achondroplasia↗
PubMed1982

Plastic surgical management of children with Down's syndrome: indications and results.

The face of a child with Down's syndrome is stigmatised by the large tongue, open mouth, saddle nose and epicanthal folds. Operative reduction of macroglossia facilitates nose-breathing, comprehensible speech and eating. Raising the nasal bridge with Cialit-preserved homograft cartilage obliterates the epicanthal folds and conceals the oblique slant of the eyelids. The child should be operated on from the third year onwards.

Adolescent↗
PubMed1994

Cacogeusia in amyloidosis associated with plasma cell dyscrasia.

Cacogeusia, being the patients' main complaint, is reported as a new symptom of amyloidosis, probably caused by a peripheral sensory neuropathy. A case is presented of a patient with weight loss, dysphagia, macroglossia and taste disturbances, due to amyloidosis associated with a plasma cell dyscrasia. The importance of oral manifestations in amyloidosis is discussed.

Aged↗
PubMed2005

Siblings with spaced arches treated with and without partial glossectomy.

Macroglossia, or enlarged tongue, is thought to be an etiological factor in open bite, bimaxillary protrusion, and dental arch spacing, and it might cause instability after orthodontic treatment. Partial glossectomy to reduce tongue size might be a useful method of solving these problems. In this report, we describe orthodontic treatment of 2 siblings with enlarged tongues and arch-space problems. The sister, whose tongue was larger and spacing problem more severe, was treated with a partial glossectomy; her brother refused surgery and was treated with a tongue-crib appliance. Stability after orthodontic treatment was evaluated.

Adolescent↗
PubMed2005

[Teratoid cyst: a rare tongue tumor in children].

BACKGROUND: Dermoid cysts are rare benign tumours (only 20 cases have been reported) with 3 different histological types. Only 5 cases of teratoid cyst of the tongue have been described in the world literature, characterized by a respiratory cilied epithelium. OBSERVATION: We report the sixth case, in a one-year-old boy with a macroglossia and permanent protrusion of the tongue. Ultrasonography showed a kystic, ovoid, homogeneous cyst. Treatment was a surgical resection. DISCUSSION: This case is similar to the other cases reported in the literature.

Dermoid Cyst↗
PubMed2005

[Intralingual dermoid cyst: imaging features of a giant cyst].

Dermoid cysts of the oral cavity are rare and most commonly involve the floor of mouth. Intralingual dermoid cysts are extremely rare and usually large at the time of diagnosis in adult patients. We report the case of 6 year old girl with macroglossia and swallowing and respiratory difficulties due to a giant intralingual dermoid cyst. Ultrasonography showed a large cystic intralingual lesion. MRI allowed accurate evaluation of the size, the extension and the relationship of the cystic mass with adjacent structures, the fat component of the cystic mass confirmed the dermoid origin. This case illustrates the diagnostic contribution of US and MRI in this disease.

Child↗
PubMed1977

Effect of tongue reduction on the orthodontic and surgical treatment of dysgnathia.

The results of reduction of tongue size in connection with orthodontic and surgical correction of prognathic anomalies of the jaws are presented. It is shown that reduction of the tongue size combined with orthodontic treatment arrests of tendency to prognathic growth when it is performed early. The results further indicate that the effect of prophylactic reduction of tongue size to check relapse following surgical correction of prognathism or open bite can only be confirmed in cases of genuine macroglossia. Since there was only one relapse in our cases without reduction of tongue size, the indication for preoperative prophylactic reduction of the tongue is limited. Personal results and experience have been compared with the findings published in the current literature.

Female↗
PubMed1990

Effect of surgical reduction of the tongue on oral stereognosis, oral motor ability, and the rest position of the tongue and mandible.

The oral ability to recognize forms and oral motor ability were studied by means of two specific tests in 27 subjects, 10 to 23 years of age, before and after tongue reduction because of macroglossia. Recordings were made before and 6 and 12 months after the operation. At the same time the natural position of the head and of the cervical column, the craniocervical relation, the position of the tongue and the hyoid bone, and the rest position of the mandible were studied with profile roentgen-cephalometry. The surgical reduction of the tongue had a minor influence on the subject's performance in the test of oral ability to recognize forms, where the number of false identifications increased somewhat. The oral motor ability and the positions of the head, the cervical column, and the hyoid bone were unaffected. After the operation, the tongue did not fill out the oral cavity as much as before and the freeway space decreased.

Adolescent↗
PubMed1989

Surgical correction of the acromegalic face. A one stage procedure with a team approach.

The features of acromegaly are presented with special reference to facial deformity. A one-stage procedure with careful pre-operative planning is advocated. The operating team is composed of a plastic surgeon and an oral surgeon. The frontal protrusion is corrected by osteotomy, the vertical and anteroposterior facial disproportion by bimaxillary procedures, the nasal deformity by rhinoplasty or skull bone grafting, and the macroglossia by tongue resection. This results in an improvement of the patient's psyche and frequently improvement in speech.

Acromegaly↗
PubMed2006

Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.

BACKGROUND: A 5-year-old year girl with a medical history of mental retardation, physical abnormalities and a known interstitial deletion of chromosome 9q22-q32 presented with a palpable suprapubic mass. During ultrasound investigation, a left renal mass was also detected. The patient underwent surgical removal of both neoplasms, which were diagnosed as a rhabdomyosarcoma and a Wilms tumor. Seven years later, she presented with macroglossia and a benign mandibular cyst. INVESTIGATIONS: Physical examination, karyotyping, abdominal and pelvic ultrasound, brain CT scan, anatomic pathology analysis with immunohistochemistry, and typing of polymorphic markers in the patched (PTCH) gene region. DIAGNOSIS: Gorlin syndrome with synchronous rhabdomyosarcoma and Wilms tumor. MANAGEMENT: Left nephrectomy, excision of paravesical tumor, excision of mandibular cysts, chemotherapy, and radiotherapy.

Basal Cell Nevus Syndrome↗
PubMed1985

Orthodontic treatment and tongue surgery in a class III open-bite malocclusion. A case report.

Cases such as this are a real challenge to clinical orthodontists. They require patience as well as proper diagnosis and treatment planning. The orthodontist must also help the patient psychologically by treating the teeth and surrounding structures and by treating the patient as an individual. It is the feeling of both the Author and the Plastic surgeon in this case, Dr. Fernando Ortiz Monasterio, that this type of surgery would be successful in most non-pathological macroglossia cases. It appears that the sutured areas might be said to develop more dense epithelial tissue, not allowing the tongue to expand and readapt so readily to the position of the teeth in the mandibular arch. This is indicated in the present case, as is demonstrated by the decrease in width of the mandibular arch from the first molar area to the anterior part of the mouth. It should be noted that orthognathic surgery was not as widely used at the time that this patient was studied and treated as it is today. If this case had presented for the first time this year, it is likely that the treatment plan of most orthodontists would have combined orthognathic and tongue surgery, with orthodontics to lessen trauma to the supporting structures of the teeth from the extreme and complicated mechanics which would have to be used in treatment. The psychological aspects of this case were of tremendous importance; the treatment results have undoubtedly changed his life completely (Fig. 10). Once unable to speak clearly with his oversize tongue, he has since gone on to complete his education and is now a successful orthodontist.

Adult↗
PubMed2000

Long-term changes in dentoskeletal pattern in a case with Beckwith-Wiedemann syndrome following tongue reduction and orthodontic treatment.

Long-term changes in the dentoskeletal pattern in a 6-year-old Japanese girl with Beckwith-Wiedemann syndrome were demonstrated. The patient showed macroglossia, which is the most common symptom of the syndrome, protruded lower lip, mandibular protrusion and anterior open bite. The jaw base relationship improved to skeletal Class I and the molar relationship to Angle Class I at the early preadolescent period following tongue reduction and phase I orthodontic treatment using a chin cap and tongue crib. Optimum intercuspation of teeth was achieved after edgewise treatment without orthognathic surgery, and a skeletal Class I apical base relationship and good facial profile were maintained after the retention period of 2 years. This case report suggests that early orthodontic treatment with tongue reduction can be effective in a case with Beckwith-Wiedemann syndrome to improve an abnormal dentoskeletal pattern.

Age Factors↗
PubMed2001

Severe dental open bite malocclusion with tongue reduction after orthodontic treatment.

We treated a 21-year-old woman with a severe open bite and macroglossia with a standard edgewise appliance and without partial glossectomy. This was followed by retention using a Begg-type plate retainer for the upper dental arch and a fixed canine-to-canine for the lower arch. A crib was added to the upper plate retainer for suppression of a tongue thrust. The lower arch relapsed during the retention period, with a widening of the intermolar distance, flaring of the anterior teeth, and increased mobility of the teeth. We chose tongue reduction to resolve these problems and one-third of the middle dorsal part of the tongue was excised. After the tongue reduction, the patient experienced no functional problem in mastication, swallowing, and gustation, but she complained of mild speech difficulty and slight pain on the dorsal portion of her tongue. These symptoms disappeared 6 months after surgery. At this time, the mandibular dental arch was markedly improved. The flared lower dental arch had returned to an upright position and the tooth mobility reduced to normal. No appliance was used after surgery. Most of the recovery changes occurred within 4 months. This case highlights the importance of the teeth tending to move toward a balance between the tongue pressure from the inside and labio-buccal pressure from the outside.

Adult↗
PubMed1999

Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis.

Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominant disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. The main clinical signs are cutis laxa, cranial and peripheral neuropathy, and corneal lattice dystrophy but heavy intermittent snoring also occurs. To evaluate whether sleep apnoea is present we performed nocturnal sleep recordings, cephalometric and spirometric analyses and multiple sleep latency tests (MSLT) in five snoring patients with a G654A gelsolin gene mutation. Four patients had obstructive sleep apnoea syndrome (OSAS) with redundant oropharyngeal and hypopharyngeal soft tissues, macroglossia and cranial neuromuscular dysfunction. The fifth patient had hypersomnia without obstructive sleep apnoea. Nasal continuous positive airway pressure (CPAP) was an effective treatment. This study presents the first evidence in favour of an association between AGel amyloidosis and OSAS, but further studies are needed to define the prevalence of OSAS and the pathogenetic roles of amyloid and variant gelsolin in its evolution.

Aged↗