{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T04:34:09Z","timestamp":1790051649145,"version":"4.0.1"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2011,8,23]],"date-time":"2011-08-23T00:00:00Z","timestamp":1314057600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Arch Otorhinolaryngol"],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1007\/s00405-011-1745-1","type":"journal-article","created":{"date-parts":[[2011,8,23]],"date-time":"2011-08-23T18:54:42Z","timestamp":1314125682000},"page":"381-387","source":"Crossref","is-referenced-by-count":27,"title":["Head and neck manifestations of 22q11.2 deletion syndromes"],"prefix":"10.1007","volume":"269","author":[{"given":"Tal","family":"Marom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yehudah","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham","family":"Goldfarb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udi","family":"Cinamon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,8,23]]},"reference":[{"key":"1745_CR1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jpeds.2005.03.007","volume":"147","author":"NH Robin","year":"2005","unstructured":"Robin NH, Shprintzen RJ (2005) Defining the clinical spectrum of deletion 22q11.2. J Pediatr 147:90\u201396","journal-title":"J Pediatr"},{"key":"1745_CR2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0065-3101(23)00073-7","volume":"48","author":"BS Emanuel","year":"2001","unstructured":"Emanuel BS, McDonald-McGinn D, Saitta SC et al (2001) The 22q11.2 deletion syndrome. Adv Pediatr 48:39\u201373","journal-title":"Adv Pediatr"},{"key":"1745_CR3","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1016\/S0140-6736(07)61601-8","volume":"370","author":"LJ Kobrynski","year":"2007","unstructured":"Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443\u20131452","journal-title":"Lancet"},{"key":"1745_CR4","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.iac.2008.01.003","volume":"28","author":"KE Sullivan","year":"2008","unstructured":"Sullivan KE (2008) Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome\/velocardiofacial syndrome. Immunol Allergy Clin North Am 28:353\u2013366","journal-title":"Immunol Allergy Clin North Am"},{"key":"1745_CR5","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ajmg.1320440237","volume":"44","author":"DA Driscoll","year":"1992","unstructured":"Driscoll DA, Spinner NB, Budarf ML et al (1992) Deletion and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261\u2013268","journal-title":"Am J Med Genet"},{"key":"1745_CR6","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","volume":"30","author":"DI Wilson","year":"1993","unstructured":"Wilson DI, Burn J, Scambler P (1993) DiGeorge syndrome: part of CATCH 22. J Med Genet 30:852\u2013856","journal-title":"J Med Genet"},{"key":"1745_CR7","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/00125817-200101000-00005","volume":"3","author":"SA Weinzimer","year":"2001","unstructured":"Weinzimer SA (2001) Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med. 3:19\u201322","journal-title":"Genet Med."},{"key":"1745_CR8","first-page":"173","volume":"2","author":"HB Robinson","year":"1975","unstructured":"Robinson HB (1975) DiGeorge\u2019s or the III\u2013IV pharyngeal pouch syndrome: pathology and a theory of pathogenesis. Perspect Pediatr Pathol 2:173\u2013206","journal-title":"Perspect Pediatr Pathol"},{"key":"1745_CR9","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1111\/j.1365-2265.2009.03736.x","volume":"72","author":"S Stagi","year":"2010","unstructured":"Stagi S, Lapi E, Gambineri E et al (2010) Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del (22) (q11)). Clin Endocrinol 72:839\u2013844","journal-title":"Clin Endocrinol"},{"key":"1745_CR10","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1067\/mpd.2001.119448","volume":"139","author":"H Kawame","year":"2001","unstructured":"Kawame H, Adachi M, Tachibana K et al (2001) Graves\u2019 disease in patients with 22q11.2 deletion. J Pediatr 139:892\u2013895","journal-title":"J Pediatr"},{"key":"1745_CR11","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.gde.2005.03.001","volume":"15","author":"A Baldini","year":"2005","unstructured":"Baldini A (2005) Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev 15:279\u2013284","journal-title":"Curr Opin Genet Dev"},{"key":"1745_CR12","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S0022-3476(79)80207-3","volume":"94","author":"ME Conley","year":"1979","unstructured":"Conley ME, Beckwith JB, Mancer JF et al (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883\u2013890","journal-title":"J Pediatr"},{"key":"1745_CR13","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","volume":"138","author":"AS Bassett","year":"2005","unstructured":"Bassett AS, Chow EW, Huster J et al (2005) Clinical features of 78 adults with 22q11 deletion syndromes. Am J Med Genet 138:307\u2013313","journal-title":"Am J Med Genet"},{"key":"1745_CR14","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1002\/lary.20281","volume":"119","author":"JR Almeida De","year":"2009","unstructured":"De Almeida JR, James AL, Papsin BC et al (2009) Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope 119:1495\u20131500","journal-title":"Laryngoscope"},{"key":"1745_CR15","doi-asserted-by":"crossref","first-page":"4268","DOI":"10.1210\/jc.86.9.4268","volume":"86","author":"Y Kitamura","year":"2001","unstructured":"Kitamura Y, Shimizu K, Ito K et al (2001) Allelotyping of follicular thyroid carcinoma: frequent allelic losses in chromosome arms 7q, 11p, and 22q. J Clin Endocrinol Metabol 86:4268\u20134272","journal-title":"J Clin Endocrinol Metabol"},{"key":"1745_CR16","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1002\/ajmg.a.31199","volume":"140","author":"DM McDonald-McGinn","year":"2006","unstructured":"McDonald-McGinn DM, Reilly A, Wallgren-Pettersson C et al (2006) Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome). Am J Med Genet 140:906\u2013909","journal-title":"Am J Med Genet"},{"key":"1745_CR17","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1542\/peds.67.2.167","volume":"67","author":"RJ Shprintzen","year":"1981","unstructured":"Shprintzen RJ, Goldberg RB, Young D et al (1981) The velo-cardio-facial syndrome: a clinical study and genetic analysis. Pediatrics 67:167\u2013172","journal-title":"Pediatrics"},{"key":"1745_CR18","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/S0022-3476(79)80207-3","volume":"94","author":"ME Conley","year":"1979","unstructured":"Conley ME, Beckwith JB, Mancer JF et al (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883\u2013890","journal-title":"J Pediatr"},{"key":"1745_CR19","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1159\/000086745","volume":"63","author":"JH Choi","year":"2005","unstructured":"Choi JH, Shin YL, Kim GH et al (2005) Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 63:294\u2013299","journal-title":"Horm Res"},{"key":"1745_CR20","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1515\/JPEM.2000.13.6.659","volume":"13","author":"E Garcia\u2013Garcia","year":"2000","unstructured":"Garcia\u2013Garcia E, Camacho-Alonso J, Gomez-Rodriguez MJ et al (2000) Transient congenital hypoparathyroidism and 22q11 deletion. J Pediatr Endocrinol Metab 13:659\u2013661","journal-title":"J Pediatr Endocrinol Metab"},{"key":"1745_CR21","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1159\/000096421","volume":"67","author":"F Al-Jenaidi","year":"2007","unstructured":"Al-Jenaidi F, Makitie O, Grunebaum E et al (2007) Parathyroid gland dysfunction in 22q11.2 deletion syndrome. Horm Res 67:117\u2013122","journal-title":"Horm Res"},{"key":"1745_CR22","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.ijporl.2010.03.006","volume":"74","author":"AG Oppenheimer","year":"2010","unstructured":"Oppenheimer AG, Fulmer S, Shifteh K et al (2010) Cervical vascular and upper airway asymmetry in velo-cardio-facial syndrome: correlation of nasopharyngoscopy with MRA. Int J Pediatr Otorhinolaryngol 74:619\u2013625","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1745_CR23","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1161\/CIRCRESAHA.109.205732","volume":"106","author":"L Ryckeb\u00fcsch","year":"2010","unstructured":"Ryckeb\u00fcsch L, Bertrand N, Mesbah K, Bajolle F, Niederreither K, Kelly RG, Zaffran S (2010) Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome. Circulation Res 106:686\u2013694","journal-title":"Circulation Res"},{"key":"1745_CR24","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1365-2249.2010.04152.x","volume":"161","author":"K Lima","year":"2010","unstructured":"Lima K, Abrahamsen TG, Foelling I et al (2010) Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles. Clin Exp Immunol 161:98\u2013107","journal-title":"Clin Exp Immunol"},{"key":"1745_CR25","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.clim.2010.04.011","volume":"136","author":"R Zemble","year":"2010","unstructured":"Zemble R, Luning Prak E, McDonald K et al (2010) Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome). Clin Immunol 136:409\u2013418","journal-title":"Clin Immunol"},{"key":"1745_CR26","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.clim.2010.02.007","volume":"135","author":"ML Markert","year":"2010","unstructured":"Markert ML, Devlin BH, McCarthy EA (2010) Thymus transplantation. Clin Immunol 135:236\u2013246","journal-title":"Clin Immunol"},{"key":"1745_CR27","first-page":"56","volume":"15","author":"RJ Shprintzen","year":"1978","unstructured":"Shprintzen RJ, Goldberg RB, Lewin ML et al (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 15:56\u201362","journal-title":"Cleft Palate J"},{"key":"1745_CR28","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.ijporl.2006.02.007","volume":"70","author":"BE Chegar","year":"2006","unstructured":"Chegar BE, Tatum SA, Marrian E et al (2006) Upper airway asymmetry in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 70:1375\u20131381","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1745_CR29","first-page":"1304","volume":"94","author":"E Sedlackova","year":"1955","unstructured":"Sedlackova E (1955) Insufficiency of palatolaryngeal passage as a developmental disorder. Cas Lek Cesk 94:1304\u20131307","journal-title":"Cas Lek Cesk"},{"key":"1745_CR30","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1001\/archfaci.5.6.503","volume":"5","author":"S Zim","year":"2003","unstructured":"Zim S, Schelper R, Kellman R et al (2003) Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Arch Facial Plast Surg 5:503\u2013507","journal-title":"Arch Facial Plast Surg"},{"key":"1745_CR31","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1001\/archotol.128.12.1408","volume":"128","author":"O Dyce","year":"2002","unstructured":"Dyce O, McDonald-McGinn D, Kirschner RE et al (2002) Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 128:1408\u20131412","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"1745_CR32","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<537::AID-AJMG16>3.0.CO;2-L","volume":"75","author":"M Marble","year":"1998","unstructured":"Marble M, Morava E, Tsien F et al (1998) Subglottic web in a mother and son with 22q11.2 deletion. Am J Med Genet 75:537","journal-title":"Am J Med Genet"},{"key":"1745_CR33","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1002\/(SICI)1096-8628(19970516)70:2<130::AID-AJMG5>3.0.CO;2-1","volume":"70","author":"S Fokstuen","year":"1997","unstructured":"Fokstuen S, Bottani A, Medeiros PF et al (1997) Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet 70:130\u2013133","journal-title":"Am J Med Genet"},{"key":"1745_CR34","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1016\/0140-6736(92)90734-K","volume":"339","author":"PJ Scambler","year":"1992","unstructured":"Scambler PJ, Kelly D, Lindsay E et al (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge critical locus. Lancet 339:1138\u20131139","journal-title":"Lancet"},{"key":"1745_CR35","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.33.8.719","volume":"33","author":"S T\u00e9zenas Du Montcel","year":"1996","unstructured":"T\u00e9zenas Du Montcel S, Mendizabai H, Aym\u00e9 S et al (1996) Prevalence of 22q11 microdeletion. J Med Genet 33:719","journal-title":"J Med Genet"},{"key":"1745_CR36","doi-asserted-by":"crossref","first-page":"81","DOI":"10.3109\/15513818509025905","volume":"4","author":"K Sein","year":"1985","unstructured":"Sein K, Wells TR, Landing BH et al (1985) Short trachea, with reduced number of cartilage rings\u2013a hitherto unrecognized feature of DiGeorge syndrome. Pediatr Pathol 4:81\u201388","journal-title":"Pediatr Pathol"},{"key":"1745_CR37","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1067\/mpd.2000.105356","volume":"137","author":"PS Eicher","year":"2000","unstructured":"Eicher PS, McDonald-Mcginn DM, Fox CA et al (2000) Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. J Pediatr 137:158\u2013164","journal-title":"J Pediatr"},{"key":"1745_CR38","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s00431-010-1161-3","volume":"169","author":"K Lima","year":"2010","unstructured":"Lima K, F\u00f8lling I, Eiklid KL et al (2010) Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr 169:983\u2013989","journal-title":"Eur J Pediatr"},{"key":"1745_CR39","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1053\/ajot.2000.16166","volume":"21","author":"RY Huang","year":"2000","unstructured":"Huang RY, Shapiro NL (2000) Structural airway anomalies in patients with DiGeorge syndrome: a current review. Am J Otolaryngol 21:326\u2013330","journal-title":"Am J Otolaryngol"},{"key":"1745_CR40","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","volume":"112","author":"LD Botto","year":"2003","unstructured":"Botto LD, May K, Fernhoff PM et al (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101\u2013107","journal-title":"Pediatrics"},{"key":"1745_CR41","first-page":"286","volume":"49","author":"KB Tan","year":"2008","unstructured":"Tan KB, Chew SK, Yeo GS (2008) 22q11.2 deletion syndrome in Singapore (2000\u20132003): a case for active ascertainment. Singap Med J 49:286\u2013289","journal-title":"Singap Med J"},{"key":"1745_CR42","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.2003.026880","volume":"89","author":"S Oskarsd\u00f3ttir","year":"2004","unstructured":"Oskarsd\u00f3ttir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89:148\u2013151","journal-title":"Arch Dis Child"},{"key":"1745_CR43","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/BF00278938","volume":"57","author":"A Chapelle De la","year":"1981","unstructured":"De la Chapelle A, Herva R, Koivisto M, Aula P (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57:253\u2013256","journal-title":"Hum Genet"},{"issue":"2","key":"1745_CR44","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0165-5876(98)00067-6","volume":"45","author":"G Vantrappen","year":"1998","unstructured":"Vantrappen G, Rommel N, Cremers CW, Devriendt K, Frijns JP (1998) The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications. Int J Pediatr Otorhinolaryngol 45(2):133\u2013141","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"1745_CR45","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1136\/adc.81.5.444","volume":"81","author":"T Sato","year":"1999","unstructured":"Sato T, Tatuzawa O, Kolike K et al (1999) B-cell lymphoma associated with DiGeorge syndrome. Arch Dis Child 81:444\u2013445","journal-title":"Arch Dis Child"},{"key":"1745_CR46","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1001\/archotol.1977.00780190085011","volume":"103","author":"HH Tewfik","year":"1977","unstructured":"Tewfik HH, Ptacek JJ, Krause CJ et al (1977) DiGeorge syndrome associated with multiple squamous cell carcinomas. Arch Otolaryngol 103:105\u2013107","journal-title":"Arch Otolaryngol"},{"key":"1745_CR47","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1684\/bdc.2009.1024","volume":"97","author":"F Bourdeaut","year":"2010","unstructured":"Bourdeaut F, Dufour C, Delattre O (2010) Rhadboid tumours: hSNF\/INI1 deficient cancers of early childhood with aggressive behaviour. Bull Cancer 97:37\u201345","journal-title":"Bull Cancer"},{"key":"1745_CR48","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s004010000353","volume":"102","author":"JA Kraus","year":"2001","unstructured":"Kraus JA, de Millas W, S\u00f6rensen N et al (2001) Indications for a tumor suppressor gene at 22q11 involved in the pathogenesis of ependymal tumors and distinct from hSNF5\/INI1. Acta Neuropathol 102:69\u201374","journal-title":"Acta Neuropathol"}],"container-title":["European Archives of Oto-Rhino-Laryngology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-011-1745-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00405-011-1745-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00405-011-1745-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T12:45:20Z","timestamp":1712753120000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00405-011-1745-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,23]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["1745"],"URL":"https:\/\/doi.org\/10.1007\/s00405-011-1745-1","relation":{},"ISSN":["0937-4477","1434-4726"],"issn-type":[{"value":"0937-4477","type":"print"},{"value":"1434-4726","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,23]]}}}