macroglossia

Summary

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)

Top Publications

  1. ncbi Once again about a new tongue reduction method
    Henry V Kruchinsky
    J Oral Maxillofac Surg 64:1696-700. 2006
  2. ncbi [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
  3. ncbi Macroglossia - not always AL amyloidosis
    Andrew 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
  4. ncbi Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency
    Susana Quijano-Roy
    Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, Garches, France
    Neuromuscul Disord 12:466-75. 2002
  5. ncbi Macroglossia caused by adenoid cystic carcinoma. Case report
    Kuauhyama 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. 2008
  6. ncbi Implant treatment of macroglossia and edentulous mandible following radiotherapy for nasopharyngeal cancer: a case report
    Frederick C S Chu
    Faculty of Dentistry, The University of Hong Kong, Hong Kong SAR, China
    Quintessence Int 34:670-3. 2003
  7. ncbi Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities
    Claudia Weiss
    Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
    Muscle Nerve 35:396-401. 2007
  8. ncbi Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency
    Frederic 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
  9. ncbi Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia
    S Suzuki
    Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan
    Clin Genet 78:580-4. 2010
  10. pmc Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    S Das
    Department of Human Genetics, The University of Chicago, Chicago, IL, 60637, USA
    Am J Hum Genet 67:1586-91. 2000

Research Grants

Detail Information

Publications210 found, 100 shown here

  1. ncbi Once again about a new tongue reduction method
    Henry V Kruchinsky
    J Oral Maxillofac Surg 64:1696-700. 2006
  2. ncbi [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...
  3. ncbi Macroglossia - not always AL amyloidosis
    Andrew 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...
  4. ncbi Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency
    Susana 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...
  5. ncbi Macroglossia caused by adenoid cystic carcinoma. Case report
    Kuauhyama 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. 2008
    A 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...
  6. ncbi Implant treatment of macroglossia and edentulous mandible following radiotherapy for nasopharyngeal cancer: a case report
    Frederick 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.
  7. ncbi Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities
    Claudia 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 ..
  8. ncbi Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency
    Frederic 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 ..
  9. ncbi Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia
    S 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...
  10. pmc Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    S 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 ..
  11. ncbi A method for determination of tongue size in patients with mandibular prognathism
    Piotr 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...
  12. ncbi [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...
  13. ncbi Case 5. Beckwith-Wiedemann syndrome
    Amy S Weinstein
    J Ultrasound Med 21:592, 609. 2002
  14. ncbi A 4-month-old girl with an enlarged tongue and limb asymmetry. Beckwith-Wiedeman syndrome
    Brad Angle
    Children s Memorial Hospital, Chicago, IL 60614, USA
    Pediatr Ann 36:261-2. 2007
  15. ncbi A new reduction glossoplasty technique for macroglossia
    Mehmet Ceber
    Acta Otolaryngol 127:558-60. 2007
  16. ncbi Macroglossia combined with lymphangioma: a case report
    Marcio Guelmann
    Department of Pediatric Dentistry, University of Florida, Gainesville, Florida 32610 0426, USA
    J Clin Pediatr Dent 27:167-9. 2003
    A 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...
  17. ncbi Acute exacerbation of macroglossia leading to necrosis of the anterior third of the tongue
    Anindya Lahiri
    Birmingham Children s Hospital, Steelhouse Lane, Birmingham, UK
    J Plast Reconstr Aesthet Surg 59:871-3. 2006
    b>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...
  18. ncbi Siblings with spaced arches treated with and without partial glossectomy
    Shingo 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. 2005
    b>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...
  19. ncbi Cleft palate and Beckwith-Wiedemann syndrome
    Carine 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.
  20. ncbi Congestive heart failure in a male with "carcinoma tongue": a case of mistaken identity
    A Bharani
    Department of Medicine, MGM Medical College, MY Hospital, Indore, MP
    J Assoc Physicians India 52:330-2. 2004
    We present a case of primary amyloidosis with macroglossia and restrictive cardiomopathy, that was mistakenly diagnosed as carcinoma of the tongue...
  21. ncbi Taste after reduction of the tongue in Beckwith-Wiedemann syndrome
    Kensuke 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...
  22. ncbi Prenatal diagnosis of Beckwith-Wiedemann syndrome
    Daniel 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...
  23. ncbi Dysarthria and dysphagia from light chain amyloidosis
    Khalid Tabbarah
    Division of Neurology, Department of Medicine, Duke University Medical Center, PO Box 2905, Durham, NC 27710, USA
    Neurology 65:1671. 2005
  24. ncbi Macroglossia
    A K Dubey
    Department of Pediatrics, Base Hospital Delhi Cantt 11010, India
    Indian Pediatr 40:1206. 2003
  25. ncbi Treatment of macroglossia in Beckwith-Wiedemann syndrome
    Luigi Clauser
    Department of Cranio Maxillo Facial Surgery, Centre for Craniofacial Deformities, Corso Giovecca, 203, 44100 Ferrara, Italy
    J Craniofac Surg 17:369-72. 2006
    A case of macroglossia caused by Beckwith Wiedemann syndrome is reported. Beckwith-Wiedemann Syndrome is an overgrowth disorder characterized by a constellation of congenital anomalies...
  26. ncbi Dental care management of a young patient with extensive lymphangioma of the tongue: a case report
    Alexandra 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 ..
  27. ncbi Exuberant macroglossia in a patient with primary systemic amyloidosis
    C G Moura
    Clin Exp Rheumatol 23:428. 2005
  28. ncbi Tongue lesions in the pediatric population
    C 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)...
  29. doi Sequential treatment of giant lymphatic malformation of the tongue combined with severe oral and maxillofacial deformities
    Rong 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
  30. ncbi [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. 2008
    We 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...
  31. ncbi Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery
    H 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...
  32. ncbi [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.
  33. ncbi [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...
  34. ncbi Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome
    Mariana 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.
  35. ncbi [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...
  36. ncbi Soft tissue, joint, and bone manifestations of AL amyloidosis: clinical presentation, molecular features, and survival
    Tatiana Prokaeva
    Boston University School of Medicine, Boston, Massachusetts 02118 2526, USA
    Arthritis Rheum 56:3858-68. 2007
    ....
  37. ncbi The tongue speaks in many ways
    Alison J Bruce
    The Department of Dermatology, Mayo Clinic, Rochester, MN 55905, USA
    Skinmed 2:338-41. 2003
  38. ncbi 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...
  39. pmc Morphologic and histologic outcomes of tongue reduction surgery in an animal model
    Jonathan 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...
  40. ncbi Symptomatic macroglossia and tongue myositis in polymyositis: treatment with corticosteroids and intravenous immunoglobulin
    E Chauvet
    Service de Medecine Interne, Centre Hospitalier Universitaire Rangueil Larrey, 24 chemin de Pouvourville, 31403 Toulouse Cedex, France
    Arthritis Rheum 46:2762-4. 2002
    Symptomatic macroglossia occurs in some rare congenital muscle diseases, such as Becker's and Duchenne's dystrophies or Pompe's disease...
  41. ncbi Dental characteristics of patients with Duchenne muscular dystrophy
    A 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...
  42. ncbi Amyloidosis of the tongue as a paraneoplastic marker of plasma cell dyscrasia
    Rutger 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...
  43. ncbi A case of systemic amyloidosis associated with multiple myeloma presented as macroglossia and purpura
    A Yucel
    J Eur Acad Dermatol Venereol 18:378-9. 2004
  44. ncbi Diffuse haemorrhagic bullous amyloidosis with multiple myeloma
    X D Wang
    Department of Dermatology, Third Hospital of Hangzhou, China
    Clin Exp Dermatol 33:94-6. 2008
  45. ncbi Medical image. Arthritis and macroglossia. Multiple myeloma complicated by amyloidosis causing arthropathy
    Varun Dhir
    Department of Clinical Immunology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    N Z Med J 120:U2534. 2007
  46. ncbi Interstitial pulmonary amyloidosis
    Vincent Cottin
    Department of Pulmonary Medicine, Center for Orphan Lung Diseases, Louis Pradel University Hospital, Claude Bernard University, Lyon, France
    Respiration 75:210. 2008
  47. ncbi Prevalence of tongue lesions among Turkish schoolchildren
    Dilek 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...
  48. ncbi Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis
    D 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 ..
  49. ncbi Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome
    L 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), ..
  50. ncbi Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia: an oral clefting model supporting the Pierre-Robin sequence
    James 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...
  51. ncbi Radiolucent lesions of the maxillofacial complex in a patient with mucolipidosis type II (MLSII): case report
    Maico 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...
  52. ncbi "Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome
    L 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...
  53. ncbi Kidney failure in the elderly due to hypothyroidism: a case report
    Graziela 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
    ....
  54. pmc Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome
    T 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...
  55. ncbi Historical Article: Hirudo medicinalis: ancient origins of, and trends in the use of medicinal leeches throughout history
    I 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...
  56. ncbi Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero
    Shigeru 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...
  57. ncbi Late onset isotretinoin resistant acne conglobata in a patient with acromegaly
    Kapil 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...
  58. ncbi Dentistry's role in the diagnosis and co-management of patients with sleep apnoea/hypopnoea syndrome
    A 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 ..
  59. pmc Lennox gastaut syndrome, review of the literature and a case report
    Tareq 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...
  60. ncbi Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
    Rosanna 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. 2002
    Beckwith-Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor predisposition and other congenital abnormalities, and is usually associated with abnormalities of chromosome 11p15...
  61. ncbi Primary congenital hypothyroidism: clinical characteristics and etiological study
    Kevalee 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...
  62. ncbi Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
    Adam C Smith
    Institute of Medical Science, University of Toronto, Toronto, Canada
    Am J Med Genet A 143:3010-5. 2007
    Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk...
  63. ncbi Gastrointestinal manifestations of amyloidosis
    Ellen 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 ..
  64. pmc Congenital hypothyroidism
    Maynika 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...
  65. ncbi Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives
    M Michael Cohen
    Department of Pediatrics, Dalhousie Univesity, Halifax, Nova Scotia B3H 3J5, Canada
    Pediatr Dev Pathol 8:287-304. 2005
    b>Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele, umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann syndrome...
  66. ncbi Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria
    Anna 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...
  67. ncbi Hypothyroid myopathy with unusually high serum creatine kinase values
    J 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...
  68. ncbi [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...
  69. ncbi Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature
    Rosa 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...
  70. ncbi [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...
  71. ncbi Anesthetic management of two cases of Beckwith-Wiedemann syndrome
    Yoshinobu 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...
  72. ncbi Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:96-102. 2007
    Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental ..
  73. ncbi Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6
    G 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)...
  74. ncbi Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6
    T Milenkovic
    Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Belgrade, Yugoslavia
    J Pediatr Endocrinol Metab 14:893-5. 2001
    We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis...
  75. ncbi [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, ..
  76. ncbi Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
    R 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...
  77. pmc Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
    Michael 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...
  78. ncbi Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
    G 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 ..
  79. pmc Anaesthetic consideration in macroglossia due to lymphangioma of tongue: a case report
    Anurag 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. 2009
    SUMMARY: Successful airway management of an infant or child with macroglossia prerequisites recognition of a potential airway problem...
  80. pmc A microdeletion at 12q24.31 can mimic beckwith-wiedemann syndrome neonatally
    E 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...
  81. ncbi [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...
  82. ncbi [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 ..
  83. ncbi Systemic amyloidosis and the gastrointestinal tract
    Prayman 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...
  84. ncbi Novel approaches to the treatment of primary amyloidosis
    O 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...
  85. ncbi The longitudinal course of two cases with cretinism diagnosed after adolescence
    Tsunenori 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 ..
  86. ncbi Acute lymphocytic leukemia in a child with Beckwith-Wiedemann syndrome
    Ziad 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...
  87. ncbi [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...
  88. pmc Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
    Genevieve 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 ..
  89. ncbi Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome
    Chumei 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...
  90. ncbi ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation
    Takeo 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...
  91. ncbi Massive macroglossia after palatoplasty: case report and review of the literature
    Shino 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 ..
  92. ncbi Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management
    M 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...
  93. ncbi Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidy
    C 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...
  94. ncbi Pituitary metastasis from renal cell carcinoma: a case report with literature review
    Suthinee 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...
  95. ncbi [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...
  96. ncbi Benign symmetric lipomatosis of the tongue in Madelung's disease
    Ana 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...
  97. ncbi A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus
    Marcella 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...
  98. ncbi CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
    Valeria 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. 2010
    Beckwith-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...
  99. ncbi Hypopituitarism in a patient with Beckwith-Wiedemann syndrome due to hypomethylation of KvDMR1
    Michela 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...
  100. ncbi Recognition and management of the infant with Beckwith-Wiedemann Syndrome
    Pamela 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...
  101. ncbi Dermoid cyst of the tongue: an association of dermoid cyst with bronchogenic epithelium
    Arnaud 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...

Research Grants1

  1. Increasing Blood and Cord Blood Donation in Blacks
    Michael DeBaun; Fiscal Year: 2006
    ....