Genomes and Genes
Summary: The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
Publications210 found, 100 shown here
- Once again about a new tongue reduction methodHenry V Kruchinsky
J Oral Maxillofac Surg 64:1696-700. 2006
- [Tracheal intubation in patients with Williams syndrome]Shinnya Kato
Department of Anesthesiology, Teikyo University School of Medicine, Tokyo 173 8606
Masui 59:632-4. 2010..The second case was a 71-year-old woman with micrognathia, slight mandibular retrusion, macroglossia, and a Mallampati class IV airway, scheduled for sigmoidectomy and insertion of a ureteral stent. She had a 2...
- Macroglossia - not always AL amyloidosisAndrew J Cowan
Department of Medicine, Amyloid Treatment and Research Program, Boston University School of Medicine, Boston Medical Center, Massachusetts, USA
Amyloid 18:83-6. 2011..b>Macroglossia is considered to be a pathognomonic feature of AL amyloidosis...
- Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencySusana Quijano-Roy
Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, Garches, France
Neuromuscul Disord 12:466-75. 2002..All the patients showed catastrophic progression of the weakness, severe restrictive respiratory insufficiency, macroglossia, peculiar extreme amyotrophy of hands and feet, and a round and 'puffy' face...
- Macroglossia caused by adenoid cystic carcinoma. Case reportKuauhyama Luna Ortiz
Department of Head and Neck Surgery, Instituto Nacional de Cancerología México, Av San Fernando no 22 Col Sección XVI Tlalpan, Mexico, DF, 14080, Mexico
Med Oral Patol Oral Cir Bucal 13:E395-7. 2008A 33-year-old woman sought medical care at our institution for macroglossia. She had been treated before with tracheostomy and gastrostomy due to an adenoid cystic carcinoma (ACC) of the mobile tongue, in clinical stage IVC...
- Implant treatment of macroglossia and edentulous mandible following radiotherapy for nasopharyngeal cancer: a case reportFrederick C S Chu
Faculty of Dentistry, The University of Hong Kong, Hong Kong SAR, China
Quintessence Int 34:670-3. 2003..The difficulties in implant treatment planning for an edentulous patient with macroglossia and soft tissue changes following radiotherapy are discussed.
- Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalitiesClaudia Weiss
Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
Muscle Nerve 35:396-401. 2007..dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal ..
- Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrederic Lirussi
Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
Am J Med Genet A 143:2796-803. 2007..A second child with de novo 18q23 deletion and features of macroglossia, naevus flammeus, bilateral inguinal hernia and transient neonatal hypoglycemia, thus also fitting in with the ..
- Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossiaS Suzuki
Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan
Clin Genet 78:580-4. 2010..The most frequent manifestation other than TNDM is intrauterine growth retardation (IUGR), and in some cases macroglossia. We investigated monozygotic twins who had macroglossia without IUGR...
- Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalitiesS Das
Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
Am J Hum Genet 67:1586-91. 2000..We describe a patient with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal ..
- A method for determination of tongue size in patients with mandibular prognathismPiotr Arkuszewski
Klinika Chirurgii Czaszkowo Szczekowo Twarzowej i Onkologicznej Uniwersytetu Medycznego w Lodzi ul Kopcińskiego 22, 90 153 Lodz
Ann Acad Med Stetin 52:125-9. 2006..The view on the role of the tongue in the etiology of dentofacial malformations and relapse after orthognathic surgery has changed over years...
- [A neonate with Beckwith-Wiedemann syndrome who developed upper airway obstruction after glossopexy]Rumiko Kotoku
Department of Anesthesiology, Osaka Medical Center, Research Institute for Maternal and Child Health, Izumi 594 1101
Masui 51:46-8. 2002..was delivered at 31 weeks of gestation with 2480 g and was diagnosed as Beckwith-Wiedeman syndrome, manifesting macroglossia, hepatomegaly, nephromegaly and omphalocele...
- Case 5. Beckwith-Wiedemann syndromeAmy S Weinstein
J Ultrasound Med 21:592, 609. 2002
- A 4-month-old girl with an enlarged tongue and limb asymmetry. Beckwith-Wiedeman syndromeBrad Angle
Children s Memorial Hospital, Chicago, IL 60614, USA
Pediatr Ann 36:261-2. 2007
- A new reduction glossoplasty technique for macroglossiaMehmet Ceber
Acta Otolaryngol 127:558-60. 2007
- Macroglossia combined with lymphangioma: a case reportMarcio Guelmann
Department of Pediatric Dentistry, University of Florida, Gainesville, Florida 32610 0426, USA
J Clin Pediatr Dent 27:167-9. 2003A four year old white female with a clinical presentation of macroglossia is described. Speech disturbances and occasional episodes of traumatic injury to the tongue with severe bleeding brought the patient to seek dental care...
- Acute exacerbation of macroglossia leading to necrosis of the anterior third of the tongueAnindya Lahiri
Birmingham Children s Hospital, Steelhouse Lane, Birmingham, UK
J Plast Reconstr Aesthet Surg 59:871-3. 2006b>Macroglossia is defined as an enlarged tongue that protrudes beyond the teeth or the alveolar ridge in the resting position. Macroglossia may be classified into generalised and localised based on the extent of tongue involvement...
- Siblings with spaced arches treated with and without partial glossectomyShingo Kawakami
Department of Orthodontics and Dentofacial Orthopedics, Institute of Health Biosciences, University of Tokushima Graduate School, 3 18 15 Kuramoto cho, Tokushima 770 8503, Japan
Am J Orthod Dentofacial Orthop 127:364-73. 2005b>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...
- Cleft palate and Beckwith-Wiedemann syndromeCarine Laroche
Stomatologie and Maxillofacial Service, CHI Poissy Saint Germain en Laye Hospital, Saint Germain en Laye, France
Cleft Palate Craniofac J 42:212-7. 2005..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.
- Congestive heart failure in a male with "carcinoma tongue": a case of mistaken identityA Bharani
Department of Medicine, MGM Medical College, MY Hospital, Indore, MP
J Assoc Physicians India 52:330-2. 2004We present a case of primary amyloidosis with macroglossia and restrictive cardiomopathy, that was mistakenly diagnosed as carcinoma of the tongue...
- Taste after reduction of the tongue in Beckwith-Wiedemann syndromeKensuke Matsune
Department of Pediatric Dentistry, Nihon University School of Dentistry at Matsudo, Matsudo, 2 870 1 Sakaecho nishi, Matsudo, Chiba 271 8587, Japan
Br J Oral Maxillofac Surg 44:49-51. 2006..We tested the sensitivity of taste after reduction of the tongue in four girls with Beckwith-Wiedemann syndrome. No patient had taste blindness, but the ability to detect salty and bitter tastes declined after reduction of the tongue...
- Prenatal diagnosis of Beckwith-Wiedemann syndromeDaniel H Williams
Department of Urology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA
Prenat Diagn 25:879-84. 2005..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...
- Dysarthria and dysphagia from light chain amyloidosisKhalid Tabbarah
Division of Neurology, Department of Medicine, Duke University Medical Center, PO Box 2905, Durham, NC 27710, USA
Neurology 65:1671. 2005
- MacroglossiaA K Dubey
Department of Pediatrics, Base Hospital Delhi Cantt 11010, India
Indian Pediatr 40:1206. 2003
- Treatment of macroglossia in Beckwith-Wiedemann syndromeLuigi Clauser
Department of Cranio Maxillo Facial Surgery, Centre for Craniofacial Deformities, Corso Giovecca, 203, 44100 Ferrara, Italy
J Craniofac Surg 17:369-72. 2006A case of macroglossia caused by Beckwith Wiedemann syndrome is reported. Beckwith-Wiedemann Syndrome is an overgrowth disorder characterized by a constellation of congenital anomalies...
- Dental care management of a young patient with extensive lymphangioma of the tongue: a case reportAlexandra Mussolino de Queiroz
Department of Pediatric, Preventive and Social Dentistry, Ribeirao Preto School of Dentistry, University of Sao Paulo, Ribeirao Preto, SP, Brazil
Spec Care Dentist 26:20-4. 2006..Lymphangioma of the tongue is a common cause of macroglossia in children, which may lead to a dry/cracked tongue with ulcerating secondary infections, difficulty in ..
- Exuberant macroglossia in a patient with primary systemic amyloidosisC G Moura
Clin Exp Rheumatol 23:428. 2005
- Tongue lesions in the pediatric populationC Horn
Department of Otolaryngology, Columbia-Presbyterian Medical Center, New York, NY, USA
Otolaryngol Head Neck Surg 124:164-9. 2001..Finally, there were 5 diffuse lesions including macroglossia (4) and massively infiltrating congenital lymphatic malformation (1)...
- Sequential treatment of giant lymphatic malformation of the tongue combined with severe oral and maxillofacial deformitiesRong Sheng Zeng
Department of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital, Sun Yat Sen University, Guangzhou, People s Republic of China
J Oral Maxillofac Surg 66:2364-71. 2008
- [Anesthetic management of a pediatric patient with Beckwith-Wiedemann syndrome accompanied by macroglossia]Isana Iwabuchi
Department of Anesthesiology, Hyogo Prefectural Child Hospital, Kobe 654 0081
Masui 57:464-6. 2008We report the anesthetic management of an infant with Beckwith-Wiedemann syndrome having massive macroglossia and umbilical hernia. Umbilical hernia repair and tongue reductions were performed under general anesthesia...
- Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical arteryH Hamada
Department of Obstetrics and Gynecology, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan
J Clin Ultrasound 29:535-8. 2001..syndrome is an inherited disorder most commonly characterized by prenatal or postnatal overgrowth, macroglossia, omphalocele, unusual earlobe creases, and increased risk of neoplasia...
- [Non-obstructive etiology of mouth breathing]M Limme
Centre Hospitalier Universitaire, Institut de Dentisterie, , Belgique
Acta Otorhinolaryngol Belg 47:141-4. 1993..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.
- [Anesthetic management in a patient with Simpson-Golabi-Behmel syndrome]K Tsuchiya
Department of Anesthesiology and Critical Care Medicine, Asahikawa Medical College, Asahikawa 078-8510
Masui 50:1106-8. 2001..Although it had been speculated preoperatively that airway management would be complicated by the macroglossia, there was no difficulty in endotracheal intubation in the present patient...
- Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndromeMariana M Cajaiba
Pediatric and Developmental Pathology Program, Department of Pathology, Yale University School of Medicine, 430 Congress Avenue, New Haven, CT 06520, USA
Nat Clin Pract Oncol 3:575-80. 2006..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.
- [Intralingual dermoid cyst: imaging features of a giant cyst]K Mrad Dali-Grissa
Service de Radiologie, Hopital Sahloul, 4002 Hammam Sousse, Tunisie
J Radiol 86:502-5. 2005..We report the case of 6 year old girl with macroglossia and swallowing and respiratory difficulties due to a giant intralingual dermoid cyst...
- Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survivalTatiana Prokaeva
Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
Arthritis Rheum 56:3858-68. 2007....
- The tongue speaks in many waysAlison J Bruce
The Department of Dermatology, Mayo Clinic, Rochester, MN 55905, USA
Skinmed 2:338-41. 2003
- Use of a modified occlusal bite guard to treat self-induced traumatic macroglossia (two case reports)S Yalcin
Istanbul University, Faculty of Dentistry, Department of Oral Surgery, Capa, Istanbul, Turkey
Ulus Travma Derg 7:70-3. 2001..To describe the use of a bite guard to avoid continued tongue trauma and edema...
- Morphologic and histologic outcomes of tongue reduction surgery in an animal modelJonathan A Perkins
Division of Pediatric Otolaryngology, Children s Hospital and Regional Medical Center, Seattle, WA 98105 0371, USA
Otolaryngol Head Neck Surg 139:291-297. 2008..To describe the effect of anterior tongue reduction surgery on tongue size, morphology, and histology...
- Symptomatic macroglossia and tongue myositis in polymyositis: treatment with corticosteroids and intravenous immunoglobulinE Chauvet
Service de Medecine Interne, Centre Hospitalier Universitaire Rangueil Larrey, 24 chemin de Pouvourville, 31403 Toulouse Cedex, France
Arthritis Rheum 46:2762-4. 2002Symptomatic macroglossia occurs in some rare congenital muscle diseases, such as Becker's and Duchenne's dystrophies or Pompe's disease...
- Dental characteristics of patients with Duchenne muscular dystrophyA L Symons
School of Dentistry, University of Queensland, Brisbane, Australia
ASDC J Dent Child 69:277-83, 234. 2002..Anterior and posterior open bites were common, associated with lip incompetence, mouth breathing, macroglossia and tongue thrusting...
- Amyloidosis of the tongue as a paraneoplastic marker of plasma cell dyscrasiaRutger I F van der Waal
Department of Dermatology, Vu University Medical Center ACTA, Amsterdam, The Netherlands
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 94:444-7. 2002..Our objective was to study the results of the medical workup in patients with amyloidosis of the oral cavity...
- A case of systemic amyloidosis associated with multiple myeloma presented as macroglossia and purpuraA Yucel
J Eur Acad Dermatol Venereol 18:378-9. 2004
- Diffuse haemorrhagic bullous amyloidosis with multiple myelomaX D Wang
Department of Dermatology, Third Hospital of Hangzhou, China
Clin Exp Dermatol 33:94-6. 2008
- Medical image. Arthritis and macroglossia. Multiple myeloma complicated by amyloidosis causing arthropathyVarun Dhir
Department of Clinical Immunology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
N Z Med J 120:U2534. 2007
- Interstitial pulmonary amyloidosisVincent Cottin
Department of Pulmonary Medicine, Center for Orphan Lung Diseases, Louis Pradel University Hospital, Claude Bernard University, Lyon, France
Respiration 75:210. 2008
- Prevalence of tongue lesions among Turkish schoolchildrenDilek Ugar-Cankal
Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, University of Gazi, Ankara, Turkey
Saudi Med J 26:1962-7. 2005..To collect data on the prevalence of tongue lesions of Turkish schoolchildren in 3 different population samples in Ankara, and to analyze the relationship between tongue lesions and gender, oral hygiene, and income levels...
- Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvisD P Samuel
Pediatric Branch, National Cancer Institute, National Institute of Health, Bethesda, MD 20895, USA
Med Pediatr Oncol 32:38-43. 1999..is also reported as part of the Beckwith-Wiedemann syndrome which has as its cardinal features omphalocele, macroglossia and gigantism with hypoglycemia, organomegaly, renal anomalies, hemihypertrophy, and embryonal tumors occurring ..
- Acid sphingomyelinase deficiency in Beckwith Wiedemann syndromeL A Réthy
Department of Paediatrics, Semmelweis University, Budapest, Hungary
Pathol Oncol Res 6:295-7. 2000..Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), ..
- Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: an oral clefting model supporting the Pierre-Robin sequenceJames E Ricks
Department of Zoology, Brigham Young University, Provo, Utah 84602, USA
Teratology 65:116-20. 2002..The present study was conducted in embryonic day 14 (E14) mice, 1 day before palate closure, to describe the relationship between growth of the lower jaw/tongue complex versus genotype of the embryo...
- Radiolucent lesions of the maxillofacial complex in a patient with mucolipidosis type II (MLSII): case reportMaico D Melo
Department of Oral and Maxillofacial Surgery, Washington Hospital Center, Washington, DC 20010, USA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 104:e30-3. 2007..Several oral manifestations have also been described, including gingival hyperplasia, macroglossia, impaired enamel formation, and delayed tooth eruption...
- "Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndromeL G Best
Department of Family Practice, University of North Dakota, Grand Forks, North Dakota, USA
Fetal Pediatr Pathol 25:9-20. 2006..syndrome (WBS) was first described in 1963 as a group of anomalies involving primarily macrosomia, macroglossia, and omphalocele...
- Kidney failure in the elderly due to hypothyroidism: a case reportGraziela Cristina Pichinin Ledo Silva
Hospital do Servidor Público Estadual de São Paulo Francisco Morato de Oliveira, Sao Paulo, Brazil
Sao Paulo Med J 126:291-3. 2008....
- Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndromeT Kleefstra
Department of Human Genetics, University Medical Centre St Radboud, Nijmegen, The Netherlands
J Med Genet 42:299-306. 2005..brachycephaly, flat face with hypertelorism, synophrys, anteverted nares, thickened lower lip, carp mouth with macroglossia, and conotruncal heart defects...
- Historical Article: Hirudo medicinalis: ancient origins of, and trends in the use of medicinal leeches throughout historyI S Whitaker
Department of Anatomy, University of Cambridge, Cambridge, UK
Br J Oral Maxillofac Surg 42:133-7. 2004..J. Ophthalmol. 75 (1991) 755], severe macroglossia [Otolaryngol. Head Neck Surg. 125 (2001) 649; J. Laryngol. Otol. 109 (1995) 442] and purpura fulminans [Ann...
- Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in uteroShigeru Itoh
Department of Obstetrics and Gynecology, Juntendo University Urayasu Hospital, Chiba, Japan
Fetal Diagn Ther 21:168-71. 2006..To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II...
- Late onset isotretinoin resistant acne conglobata in a patient with acromegalyKapil Jain
Department of Dermatology, Venereology and Leprology, Pt B D S Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India
Indian J Dermatol Venereol Leprol 74:139-41. 2008..examination revealed cutis verticis gyrata, thick eyelids, a large triangular nose, a thickened lower lip, macroglossia, widely spaced teeth and widened skin pores with wet and oily skin. Hair was fine and nails were flat and wide...
- Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndromeA H Friedlander
VA Greater Los Angeles Healthcare System, CA 90073, USA
Br Dent J 189:76-80. 2000..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 ..
- Lennox gastaut syndrome, review of the literature and a case reportTareq Abu Saleh
Department of Oral Medicine and Periodontics, University of the Western Cape, Cape Town, South Africa
Head Face Med 4:9. 2008..In South Africa, the incidence of secondary epilepsy is higher than what is found in developed countries resulting in higher incidence of the disease. LGS seizures are often treatment resistant and the long term prognosis is poor...
- Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndromeRosanna Weksberg
Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mol Genet 11:1317-25. 2002Beckwith-Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated with abnormalities of chromosome 11p15...
- Primary congenital hypothyroidism: clinical characteristics and etiological studyKevalee Unachak
Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Thailand
J Med Assoc Thai 87:612-7. 2004..The other common signs were dry or mottled skin, abdominal distension, macroglossia, short stature, puffy face and umbilical hernia. Kocher-Debré-Semelaigne syndrome comprised 18...
- Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15Adam C Smith
Institute of Medical Science, University of Toronto, Toronto, Canada
Am J Med Genet A 143:3010-5. 2007Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk...
- Gastrointestinal manifestations of amyloidosisEllen C Ebert
Department of Medicine, UMDNJ Robert Wood Johnson Medical School, New Brunswick, New Jersey 09803, USA
Am J Gastroenterol 103:776-87. 2008..The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the ..
- Congenital hypothyroidismMaynika V Rastogi
Department of Pediatrics, Division of Endocrinology, Oregon Health and Science University, 707 SW Gaines Street, Portland, OR, USA
Orphanet J Rare Dis 5:17. 2010..On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia...
- Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectivesM Michael Cohen
Department of Pediatrics, Dalhousie Univesity, Halifax, Nova Scotia B3H 3J5, Canada
Pediatr Dev Pathol 8:287-304. 2005b>Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome...
- Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteriaAnna M Lehman
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet A 146:1299-306. 2008..large fontanelles, ocular hypertelorism, a wide, broad forehead, midface retraction, a short, upturned nose, macroglossia, and a short neck...
- Hypothyroid myopathy with unusually high serum creatine kinase valuesJ Finsterer
Ludwig Boltzmann Institute for Research in Epilepsy and Neuromuscular Disorders, Vienna, Austria
Horm Res 52:205-8. 1999..He presented with bradyphrenia, macroglossia, dysarthria, myxedema, monoparesis, reduced deep tendon reflexes and stocking-type sensory disturbances...
- [Glossitis granulomatosa--an unusual subtype of Melkersson-Rosenthal syndrome]O P Hornstein
Mund Kiefer Gesichtschir 2:14-9. 1998..The recurrent inflammation tends to change into persisting macroglossia with considerable functional and sensory oral disturbances...
- Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literatureRosa Muguerza
Department of Pediatric Surgery, Complejo Hospitalario Xeral Cies, Pizarro 22, 36204 Vigo, Spain
J Pediatr Surg 40:1341-4. 2005..Clinical examination disclosed left hemihypertrophy, macroglossia, bilateral exophthalmos, and enlargement of the left testis...
- [Anesthetic management of a child with Angelman's syndrome]Naohiro Ohshita
Department of Anesthesiology, Tokushima University Hospital, Tokushima 770 8503
Masui 59:484-6. 2010..retardation, puppet-like ataxia, easily excitable personality, seizures, paroxysmal laughter, strabismus and macroglossia. A 4-year-old girl with Angelman syndrome underwent strabismus repair under general anesthesia...
- Anesthetic management of two cases of Beckwith-Wiedemann syndromeYoshinobu Kimura
Department of Anesthesia, Takikawa Municipal Hospital, Takikawa, Japan
J Anesth 22:93-5. 2008..This syndrome consists of various abnormalities, including macroglossia, visceromegaly, omphalocele, and gigantism...
- Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndromeChih Ping Chen
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
Taiwan J Obstet Gynecol 46:96-102. 2007Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental ..
- Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6G Valerio
Department of Pediatrics, DPMSC, University of Udine, Italy
J Pediatr Endocrinol Metab 14:897-900. 2001..At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia)...
- Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6T Milenkovic
Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Belgrade, Yugoslavia
J Pediatr Endocrinol Metab 14:893-5. 2001We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis...
- [Anesthetic management of a boy with sialidosis]G Gonzalez Gonzalez
Servicio de Anestesiologia, Reanimacion y Terapeutica del Dolor, Hospital de Traumatología y Rehabilitaci6n Hospitales Universitarios Virgen del Rocío, Sevilla
Rev Esp Anestesiol Reanim 53:253-6. 2006..Physical examination revealed pectus carinatum; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, ..
- Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6R Hermann
Department of Pediatrics, University Medical School of Pecs, Pecs, Hungary
Pediatrics 105:49-52. 2000..The purpose of this study was to examine the role of chromosome 6 in the pathogenesis of neonatal diabetes mellitus and to detect differences between these 2 phenotypes...
- Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defectsMichael R Debaun
Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine, Saint Louis, USA
Am J Hum Genet 70:604-11. 2002..syndrome (BWS) is a congenital cancer-predisposition syndrome associated with embryonal cancers, macroglossia, macrosomia, ear pits or ear creases, and midline abdominal-wall defects...
- Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase geneG L Xu
Department of Genetics and Development, College of Physicians and Surgeons of Columbia University, New York 10032, USA
Nature 402:187-91. 1999..Mild facial anomalies include hypertelorism, low-set ears, epicanthal folds and macroglossia. The cytogenetic abnormalities in lymphocytes are exuberant: juxtacentromeric heterochromatin is greatly ..
- Anaesthetic consideration in macroglossia due to lymphangioma of tongue: a case reportAnurag Tewari
Assistant Professor, Department of Anaesthesiology and Resuscitation, Institute Dayanand Medical College and Hospital, Ludhiana, Punjab, India PIN 141001
Indian J Anaesth 53:79-83. 2009SUMMARY: Successful airway management of an infant or child with macroglossia prerequisites recognition of a potential airway problem...
- A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatallyE Baple
Department of Clinical Genetics, Great Ormond Street Hospital for Children, UCL, London, UK
Mol Syndromol 1:42-5. 2010..who was initially suspected to have Beckwith-Wiedemann syndrome because of recurrent neonatal hypoglycaemias, macroglossia and overgrowth, but in whom no 11p15 abnormality could be found...
- [Sleep apnea-hypopnea syndrome in a pediatric population: differences between children with tonsillar hypertrophy and those with concomitant disease]Monica Llombart
Unidad de Trastornos de Sueño, Seccion de Neumologia, Hospital Universitari Sant Joan d Alacant, San Juan de Alicante, Alicante, Spain
Arch Bronconeumol 43:655-61. 2007..Our aim was to compare clinical and polysomnographic variables in pediatric patients with sleep apnea-hypopnea syndrome (SAHS) secondary to tonsillar hypertrophy with those in patients with concomitant disease...
- [Usefulness of cephalometric measurements in the diagnostics of patients with obstructive sleep apnea syndrome--preliminary report]Ewa Olszewska
Klinika Otolaryngologii AM w Białymstoku
Otolaryngol Pol 61:95-101. 2007..with local anatomical predispositions to OSA such as craniofacial anomalies, adenoid and tonsillar hypertrophy, macroglossia, hypertonic oropharyngeal soft tissue, base of tongue proptosis, mandibular hypoplasia, posterior mandibular ..
- Systemic amyloidosis and the gastrointestinal tractPrayman T Sattianayagam
National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine Royal Free Campus, University College London Medical School, London, UK
Nat Rev Gastroenterol Hepatol 6:608-17. 2009..Typical clinical presentations, most of which are nonspecific, include macroglossia, hemorrhage, motility disorders, disturbance of bowel habit and malabsorption...
- Novel approaches to the treatment of primary amyloidosisO Sezer
Department of Hematology and Oncology, Universitatsklinikum Charite, Humboldt Universitat, Berlin, Germany
Expert Opin Investig Drugs 9:2343-50. 2000..heart failure, hepatomegaly, peripheral neuropathy, orthostatic hypotension, carpal tunnel syndrome and macroglossia are other common features. The median survival is one to two years...
- The longitudinal course of two cases with cretinism diagnosed after adolescenceTsunenori Hirayama
Department of Pediatrics, National Fukushima Hospital, Sukagawa shi, Japan
J Nippon Med Sch 70:175-8. 2003..On admission in June 1968, they were 17 and 16 years old. They had short stature, mental retardation, macroglossia, saddle nose, retardation of bone maturation, edematous face, coexistence of permanent teeth and deciduous ..
- Acute lymphocytic leukemia in a child with Beckwith-Wiedemann syndromeZiad Khatib
Division of Hematology Oncology, Department of Pediatrics, Miami Children s Hospital, Miami, Florida, USA
J Pediatr Hematol Oncol 26:45-7. 2004..syndrome (BWS) is an overgrowth syndrome characterized by neonatal hypoglycemia, abdominal wall defects, macroglossia, organomegaly, ear pits and creases, hemihypertrophy, and increased birthweight...
- [Awake intubation using lightwand technique under conscious sedation with remifentanil]Ayuko Igarashi
Department of Anesthesiology, Yamagata Prefectural Shinjo Hospital, Shinjo 996 0025
Masui 57:1233-6. 2008..was a 62-year-old woman with a large benign soft palate tumor and the second was a 64-year-old woman with macroglossia secondary to acromegaly...
- Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndromeGenevieve Baujat
INSERM U393 and Département de Génétique, Hopital Necker Enfants Malades, Paris, France
Am J Hum Genet 74:715-20. 2004..Beckwith-Wiedemann syndrome (BWS) is a distinct overgrowth condition characterized by macroglossia, abdominal-wall defects, visceromegaly, embryonic tumors, hemihyperplasia, ear anomalies, renal anomalies, and ..
- Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndromeChumei C Li
Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Ont, Canada
Fetal Diagn Ther 25:211-5. 2009..Fetal imaging, in particular nuchal translucency, is playing an increasingly important role in diagnosing genetic syndromes. We report imaging findings of a male fetus with Simpson-Golabi-Behmel (SGB) syndrome...
- ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutationTakeo Kubota
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Kodaira, Japan
Am J Med Genet A 129:290-3. 2004..When seen by us at age 3 years with virilization, she had a cleft plate, macroglossia, and an atrial septal defect. An adenoma was surgically removed from the right adrenal cortex...
- Massive macroglossia after palatoplasty: case report and review of the literatureShino Junghaenel
Department of Neonatology and Paediatric Intensive Care, University Hospital of Cologne, Children s Hospital, Kerpener Str 62, 50937 Cologne, Germany
Eur J Pediatr 171:433-7. 2012..but typical and frightening complication is postoperative extreme, very rapid emergence, and life-threatening macroglossia. While macroglossia usually has its peak within 24-48 h after palatoplasty and resolves spontaneously, we ..
- Schinzel-Giedion syndrome: interesting facial and orodental features, and dental managementM E Cooke
Department of Paediatric Dentistry, Charles Clifford Dental Hospital, Sheffield, UK
Int J Paediatr Dent 12:66-72. 2002..Clinical management of these patients requires a coordinated approach from a team of medical and dental specialists...
- Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidyC Sergi
Institute of Pathology, University of Heidelberg, Germany
Pathologica 92:257-63. 2000..exophthalmos, low-set ears, micro-/retrognathia, microgenia, median cleft lip and/or palate, gnathoschisis, macroglossia), encephalocele, spina bifida, syndactyly, club or rocker-bottom feet, pes equino-valgus...
- Pituitary metastasis from renal cell carcinoma: a case report with literature reviewSuthinee Ithimakin
Division of Medical Oncology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
J Med Assoc Thai 96:S257-61. 2013..Physical examination showed noticeable signs of hypothyroidism, such as slurred speech, dry skin, macroglossia, myoedema and slow relaxation of ankle reflexes...
- [Difficult tracheal intubation in paediatric: myth or reality?]S Frenea
Département d anesthésie réanimation I, Hopital Michallon, BP 217, 38043 Grenoble, France
Ann Fr Anesth Reanim 22:653-8. 2003..micro or retrognathia, limited mouth opening, reduced distance between thyroid cartilage and chin, macroglossia and external ear malformations...
- Benign symmetric lipomatosis of the tongue in Madelung's diseaseAna Lopez-Ceres
Department of Oral and Maxillofacial Surgery Head Dr A Valiente Alvarez, Hospital Carlos Haya, Malaga, Spain
J Craniomaxillofac Surg 34:489-93. 2006..Although rare, symmetrical lipomatosis involving the tongue exclusively has been previously reported. Here another case is presented of Madelung's disease involving the tongue...
- A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusMarcella Zollino
Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Largo F Vito 1, Roma 00168, Italy
J Med Genet 47:429-32. 2010..Clinically, diagnostic criteria include macrosomia, macroglossia, abdominal wall defects, neonatal hypoglycaemia, visceromegalies and hemihyperplasia...
- CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphismsValeria Romanelli
INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain
Am J Med Genet A 152:1390-7. 2010Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macroglossia, macrosomia, and abdominal wall defects. It is a multigenic disorder caused in most patients by alterations in growth regulatory genes...
- Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1Michela Baiocchi
Pediatrics Clinic of Brescia, Brescia, Italy
Pediatrics 133:e1082-6. 2014..p15.5. The syndrome includes overgrowth, macroglossia, organomegaly, abdominal wall defects, hypoglycemia, and long-term malignancy risk...
- Recognition and management of the infant with Beckwith-Wiedemann SyndromePamela S Spivey
Levine Children s Hospital, Department of Neonatology, Charlotte, North Carolina 28204, USA
Adv Neonatal Care 9:279-84; quiz 285. 2009..The characteristic findings are macroglossia, abdominal wall defects, and macrosomia...
- Dermoid cyst of the tongue: an association of dermoid cyst with bronchogenic epitheliumArnaud Gleizal
Department of Maxillo Facial Surgery, Hopital Nord, 93 Grande Rue de las Croix Rousse, 69317 Lyon Cedex 04, France
J Craniomaxillofac Surg 34:113-6. 2006..Others were composed of cylindrical, ciliated epithelial cells of respiratory type. This is the third reported case in the world literature. All cases were reviewed and compared with this case...
- Increasing Blood and Cord Blood Donation in BlacksMichael DeBaun; Fiscal Year: 2006....