{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T04:21:43Z","timestamp":1754108503506,"version":"3.37.3"},"reference-count":73,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T00:00:00Z","timestamp":1576022400000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Head Face Med"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms. In addition, the spectrum of clinical features differs among populations and even within family members. The facial features related to this syndrome are not an exception, and although part of its variation arises through development, few studies address this topic in order to understand the intra and inter-population heterogeneities. Here, we analyze the ontogenetic dynamics of facial morphology of Mexican patients with del22q11.2 syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Frontal facial photographs of 37 patients (mean age\u2009=\u20097.65\u2009\u00b1\u20094.21 SE) with del22q11.2DS and 200 control subjects (mean age\u2009=\u20097.69\u2009\u00b1\u20094.26 SE) were analyzed using geometric morphometric methods. Overall mean shape and size differences between patients and controls were analyzed, as well as differences in ontogenetic trajectories (i.e. development, growth, and allometry).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found that Mexican patients show typical traits that have been reported for the Caucasian population. Additionally, there were significant differences between groups in the facial shape and size when all the ontogenetic stages were considered together and, along ontogeny. The developmental and allometric trajectories of patients and controls were similar, but they differed in allometric scaling. Finally, patients and controls showed different growth trajectories.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results suggest that the typical face of patients with del22q11.2DS is established prenatally; nonetheless, the postnatal ontogeny could influence the dysmorphology and its variability through size-related changes.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13005-019-0213-9","type":"journal-article","created":{"date-parts":[[2019,12,11]],"date-time":"2019-12-11T12:46:04Z","timestamp":1576068364000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome"],"prefix":"10.1186","volume":"15","author":[{"given":"Arodi","family":"Farrera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Villanueva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Vizca\u00edno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Medina-Bravo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norma","family":"Balderr\u00e1bano-Saucedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Rives","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Hern\u00e1ndez-Carbajal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Granados-Riveron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8018-7749","authenticated-orcid":false,"given":"Roc\u00edo","family":"S\u00e1nchez-Urbina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,12,11]]},"reference":[{"issue":"4","key":"213_CR1","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1007\/s00401-013-1104-y","volume":"125","author":"JT Richtsmeier","year":"2013","unstructured":"Richtsmeier JT, Flaherty K. Hand in glove: brain and skull in development and dysmorphogenesis. Acta Neuropathol. 2013;125(4):469\u201389.","journal-title":"Acta Neuropathol"},{"issue":"10","key":"213_CR2","doi-asserted-by":"publisher","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34(10):798\u2013804.","journal-title":"J Med Genet"},{"key":"213_CR3","doi-asserted-by":"crossref","unstructured":"Shprintzen RJ. Velo-cardio-facial syndrome. Management of genetic syndromes. Hoboken: Wiley; 2005. p. 615\u201331.","DOI":"10.1002\/0471695998.mgs051"},{"issue":"9596","key":"213_CR4","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1016\/S0140-6736(07)61601-8","volume":"370","author":"LJ Kobrynski","year":"2007","unstructured":"Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370(9596):1443\u201352.","journal-title":"Lancet."},{"issue":"4","key":"213_CR5","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1034\/j.1399-0004.2003.00049.x","volume":"63","author":"MC Digilio","year":"2003","unstructured":"Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. 2003;63(4):308\u201313.","journal-title":"Clin Genet"},{"issue":"3","key":"213_CR6","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<250::AID-AJMG2>3.0.CO;2-T","volume":"66","author":"JB Ravnan","year":"1996","unstructured":"Ravnan JB, Chen E, Golabi M, Lebo RV. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet. 1996;66(3):250\u20136.","journal-title":"Am J Med Genet"},{"issue":"24","key":"213_CR7","doi-asserted-by":"publisher","first-page":"2924","DOI":"10.1002\/ajmg.a.32101","volume":"143A","author":"AC Stachon","year":"2007","unstructured":"Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, et al. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A. 2007;143A(24):2924\u201330.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"213_CR8","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V","volume":"86","author":"E Cohen","year":"1999","unstructured":"Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: a review. Am J Med Genet. 1999;86(4):359\u201365.","journal-title":"Am J Med Genet"},{"issue":"1","key":"213_CR9","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1034\/j.1399-0004.1998.531530113.x","volume":"53","author":"S Fokstuen","year":"1998","unstructured":"Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, et al. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet. 1998;53(1):63\u20139.","journal-title":"Clin Genet"},{"issue":"2","key":"213_CR10","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1016\/S0735-1097(98)00259-9","volume":"32","author":"E Goldmuntz","year":"1998","unstructured":"Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32(2):492\u20138.","journal-title":"J Am Coll Cardiol"},{"issue":"9","key":"213_CR11","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1136\/jmg.28.9.596","volume":"28","author":"AH Lipson","year":"1991","unstructured":"Lipson AH, Yuille D, Angel M, Thompson PG, Vandervoord JG, Beckenham EJ. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet. 1991;28(9):596\u2013604.","journal-title":"J Med Genet"},{"issue":"16","key":"213_CR12","doi-asserted-by":"publisher","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","volume":"9","author":"PJ Scambler","year":"2000","unstructured":"Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9(16):2421\u20136.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"213_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/MD.0b013e3182060469","volume":"90","author":"DM McDonald-McGinn","year":"2011","unstructured":"McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1\u201318.","journal-title":"Medicine (Baltimore)"},{"issue":"8","key":"213_CR14","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1111\/j.1651-2227.2008.00858.x","volume":"97","author":"S Oskarsd\u00f3ttir","year":"2008","unstructured":"Oskarsd\u00f3ttir S, Holmberg E, Fasth A, Str\u00f6mland K. Facial features in children with the 22q11 deletion syndrome. Acta Paediatr. 2008;97(8):1113\u20137.","journal-title":"Acta Paediatr"},{"issue":"3","key":"213_CR15","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1007\/s00431-004-1577-8","volume":"164","author":"S Oskarsd\u00f3ttir","year":"2005","unstructured":"Oskarsd\u00f3ttir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164(3):146\u201353.","journal-title":"Eur J Pediatr"},{"issue":"2","key":"213_CR16","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1002\/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z","volume":"97","author":"A Swillen","year":"2000","unstructured":"Swillen A, Vogels A, Devriendt K, Fryns JP. Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet. 2000;97(2):128\u201335.","journal-title":"Am J Med Genet"},{"issue":"3","key":"213_CR17","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1002\/ajmg.a.30069","volume":"134","author":"DM McDonald-McGinn","year":"2005","unstructured":"McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, et al. The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A. 2005;134(3):242\u20136.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"213_CR18","first-page":"32","volume":"21","author":"SC Brown","year":"2010","unstructured":"Brown SC, Henderson BD, Buys DA, Theron M, Long MA, Smit F. Cardiac abnormalities and facial anthropometric measurements in children from the free State and Northern Cape provinces of South Africa with chromosome 22q11.2 microdeletion. Cardiovasc J Afr. 2010;21(1):32\u20136.","journal-title":"Cardiovasc J Afr"},{"issue":"4","key":"213_CR19","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1002\/ajmg.a.38199","volume":"173","author":"P Kruszka","year":"2017","unstructured":"Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, et al. 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A. 2017;173(4):879\u201388.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"213_CR20","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.gheart.2017.01.003","volume":"12","author":"Ambroise Wonkam","year":"2017","unstructured":"Wonkam A, Toko R, Chelo D, Tekendo-Ngongang C, Kingue S, Dahoun S. The 22q11.2 deletion syndrome in congenital heart defects: prevalence of microdeletion syndrome in Cameroon. Glob Heart. 2017;12(2):115\u2013120.","journal-title":"Global Heart"},{"issue":"1","key":"213_CR21","doi-asserted-by":"publisher","first-page":"e54404","DOI":"10.1371\/journal.pone.0054404","volume":"8","author":"D Wu","year":"2013","unstructured":"Wu D, Chen Y, Xu C, Wang K, Wang H, Zheng F, et al. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. PLoS One. 2013;8(1):e54404.","journal-title":"PLoS One"},{"issue":"1","key":"213_CR22","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1097\/00125817-200101000-00006","volume":"3","author":"DM McDonald-McGinn","year":"2001","unstructured":"McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med. 2001;3(1):23\u20139.","journal-title":"Genet Med"},{"issue":"1","key":"213_CR23","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/1755-8166-5-13","volume":"5","author":"A Halder","year":"2012","unstructured":"Halder A, Jain M, Chaudhary I, Varma B. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size. Mol Cytogenet. 2012;5(1):13.","journal-title":"Mol Cytogenet"},{"issue":"11","key":"213_CR24","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.e71","volume":"39","author":"SM Singh","year":"2002","unstructured":"Singh SM, Murphy B, O'Reilly R. Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis. J Med Genet. 2002;39(11):e71.","journal-title":"J Med Genet"},{"issue":"4","key":"213_CR25","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1002\/ajmg.a.30984","volume":"138","author":"AS Bassett","year":"2005","unstructured":"Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138(4):307\u201313.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"213_CR26","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/j.jacc.2004.10.056","volume":"45","author":"LM Beauchesne","year":"2005","unstructured":"Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jalal SM, et al. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol. 2005;45(4):595\u20138.","journal-title":"J Am Coll Cardiol"},{"issue":"1","key":"213_CR27","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/1096-8628(20010415)100:1<1::AID-AJMG1206>3.0.CO;2-6","volume":"100","author":"L Guyot","year":"2001","unstructured":"Guyot L, Dubuc M, Pujol J, Dutour O, Philip N. Craniofacial anthropometric analysis in patients with 22q11 microdeletion. Am J Med Genet. 2001;100(1):1\u20138.","journal-title":"Am J Med Genet"},{"issue":"12","key":"213_CR28","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1002\/bies.950181206","volume":"18","author":"RM Winter","year":"1996","unstructured":"Winter RM. Analysing human developmental abnormalities. Bioessays. 1996;18(12):965\u201371.","journal-title":"Bioessays."},{"key":"213_CR29","unstructured":"Mitteroecker P, Gunz P, Windhager S, Schaefer K. A brief review of shape, form, and allometry in geometric morphometrics, with applications to human facial morphology. Hystrix It J Mamm, 2013;24(1):59\u201366"},{"issue":"3","key":"213_CR30","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1046\/j.1469-7580.2002.00092.x","volume":"201","author":"US Vioarsd\u00f3ttir","year":"2002","unstructured":"Vioarsd\u00f3ttir US, O'Higgins P, Stringer C. A geometric morphometric study of regional differences in the ontogeny of the modern human facial skeleton. J Anat. 2002;201(3):211\u201329.","journal-title":"J Anat"},{"issue":"1","key":"213_CR31","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1002\/ajpa.22759","volume":"158","author":"SE Freidline","year":"2015","unstructured":"Freidline SE, Gunz P, Hublin JJ. Ontogenetic and static allometry in the human face: contrasting Khoisan and Inuit. Am J Phys Anthropol. 2015;158(1):116\u201331.","journal-title":"Am J Phys Anthropol"},{"issue":"12","key":"213_CR32","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1136\/adc.2006.103507","volume":"92","author":"P Hammond","year":"2007","unstructured":"Hammond P. The use of 3D face shape modelling in dysmorphology. Arch Dis Child. 2007;92(12):1120\u20136.","journal-title":"Arch Dis Child"},{"issue":"1","key":"213_CR33","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1002\/(SICI)1096-8628(19961002)65:1<13::AID-AJMG2>3.0.CO;2-Z","volume":"65","author":"JE Allanson","year":"1996","unstructured":"Allanson JE, Cole TR. Sotos syndrome: evolution of facial phenotype subjective and objective assessment. Am J Med Genet. 1996;65(1):13\u201320.","journal-title":"Am J Med Genet"},{"issue":"11","key":"213_CR34","doi-asserted-by":"publisher","first-page":"2665","DOI":"10.1002\/ajmg.a.35426","volume":"158A","author":"A Habel","year":"2012","unstructured":"Habel A, McGinn MJ, Zackai EH, Unanue N, McDonald-McGinn DM. Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A. 2012;158A(11):2665\u201371.","journal-title":"Am J Med Genet A"},{"issue":"11","key":"213_CR35","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1002\/ajmg.a.35485","volume":"158A","author":"DC Tarquinio","year":"2012","unstructured":"Tarquinio DC, Jones MC, Jones KL, Bird LM. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A(11):2672\u201381.","journal-title":"Am J Med Genet A"},{"issue":"5","key":"213_CR36","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1002\/ajmg.a.38175","volume":"173","author":"Y Levy-Shraga","year":"2017","unstructured":"Levy-Shraga Y, Gothelf D, Goichberg Z, Katz U, Somech R, Pinhas-Hamiel O, et al. Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome. Am J Med Genet A. 2017;173(5):1301\u20138.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"213_CR37","first-page":"9","volume":"26","author":"FJ Rohlf","year":"2015","unstructured":"Rohlf FJ. The tps series of software. Hystrix Ital J Mammal. 2015;26(1):9\u201312.","journal-title":"Hystrix Ital J Mammal"},{"key":"213_CR38","unstructured":"Bookstein, FL.Morphometric Tools for Landmarks Data: Geometryand Biology. New York: Cambridge University Press; 1991. p. 20\u201324."},{"key":"213_CR39","unstructured":"Zelditch ML, Swiderski DL, Sheets HD, Fink WL. Geometric morphometrics for biologists: a primer. Elsevier Academic Press: New York and London; 2004. p. 10\u201313."},{"issue":"10","key":"213_CR40","doi-asserted-by":"publisher","first-page":"1909","DOI":"10.1111\/j.0014-3820.2002.tb00117.x","volume":"56","author":"CP Klingenberg","year":"2002","unstructured":"Klingenberg CP, Barluenga M, Meyer A. Shape analysis of symmetric structures: quantifying variation among individuals and asymmetry. Evolution. 2002;56(10):1909\u201320.","journal-title":"Evolution."},{"issue":"5","key":"213_CR41","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1111\/j.1558-5646.2009.00649.x","volume":"63","author":"DC Adams","year":"2009","unstructured":"Adams DC, Collyer ML. A general framework for the analysis of phenotypic trajectories in evolutionary studies. Evolution. 2009;63(5):1143\u201354.","journal-title":"Evolution."},{"issue":"1630","key":"213_CR42","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1098\/rspb.2007.1169","volume":"275","author":"AG Drake","year":"2008","unstructured":"Drake AG, Klingenberg CP. The pace of morphological change: historical transformation of skull shape in St Bernard dogs. Proc Biol Sci. 2008;275(1630):71\u20136.","journal-title":"Proc Biol Sci"},{"key":"213_CR43","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1186\/1471-2148-10-216","volume":"10","author":"DC Adams","year":"2010","unstructured":"Adams DC, Nistri A. Ontogenetic convergence and evolution of foot morphology in European cave salamanders (family: Plethodontidae). BMC Evol Biol. 2010;10:216.","journal-title":"BMC Evol Biol"},{"key":"213_CR44","volume-title":"R: a language and environment for statistical computing","author":"RC Team","year":"2017","unstructured":"Team RC. R: a language and environment for statistical computing; 2017. Available from: https:\/\/www.R-project.org\/"},{"issue":"4","key":"213_CR45","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1111\/2041-210X.12035","volume":"4","author":"Dean C. Adams","year":"2013","unstructured":"Adams DC, Ot\u00e1rola-Castillo E. Geomorph: an R package for the collection and analysis of geometric morphometric shape data. Methods in Ecology and Evolution 2013,4:393\u2013399.","journal-title":"Methods in Ecology and Evolution"},{"issue":"6","key":"213_CR46","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1086\/498396","volume":"77","author":"P Hammond","year":"2005","unstructured":"Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, et al. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet. 2005;77(6):999\u20131010.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"213_CR47","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/ajmg.a.20665","volume":"126A","author":"P Hammond","year":"2004","unstructured":"Hammond P, Hutton TJ, Allanson JE, Campbell LE, Hennekam RC, Holden S, et al. 3D analysis of facial morphology. Am J Med Genet A. 2004;126A(4):339\u201348.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"213_CR48","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1002\/ajmg.a.36893","volume":"167A","author":"S Prasad","year":"2015","unstructured":"Prasad S, Katina S, Hennessy RJ, Murphy KC, Bowman AW, Waddington JL. Craniofacial dysmorphology in 22q11.2 deletion syndrome by 3D laser surface imaging and geometric morphometrics: illuminating the developmental relationship to risk for psychosis. Am J Med Genet A. 2015;167A(3):529\u201336.","journal-title":"Am J Med Genet A"},{"issue":"6","key":"213_CR49","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1097\/01.PRS.0000138591.20999.F1","volume":"114","author":"DB Becker","year":"2004","unstructured":"Becker DB, Pilgram T, Marty-Grames L, Govier DP, Marsh JL, Kane AA. Accuracy in identification of patients with 22q11.2 deletion by likely care providers using facial photographs. Plast Reconstr Surg. 2004;114(6):1367\u201372.","journal-title":"Plast Reconstr Surg"},{"issue":"1","key":"213_CR50","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.ejmg.2007.10.002","volume":"51","author":"T Vollmar","year":"2008","unstructured":"Vollmar T, Maus B, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D, et al. Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces. Eur J Med Genet. 2008;51(1):44\u201353.","journal-title":"Eur J Med Genet"},{"issue":"10","key":"213_CR51","doi-asserted-by":"crossref","first-page":"vii","DOI":"10.1002\/ajmg.a.36221","volume":"164A","author":"D Levenson","year":"2014","unstructured":"Levenson D. Facial analysis technology aids diagnoses of genetic disorders: applications narrow down potential genetic syndromes by matching facial phenotypes to distinct set of possible genetic conditions. Am J Med Genet A. 2014;164A(10):vii\u2013viii.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"213_CR52","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1016\/j.ajodo.2015.09.028","volume":"149","author":"NM Young","year":"2016","unstructured":"Young NM, Sherathiya K, Gutierrez L, Nguyen E, Bekmezian S, Huang JC, et al. Facial surface morphology predicts variation in internal skeletal shape. Am J Orthod Dentofacial Orthop. 2016;149(4):501\u20138.","journal-title":"Am J Orthod Dentofacial Orthop"},{"issue":"9","key":"213_CR53","doi-asserted-by":"publisher","first-page":"2186","DOI":"10.1002\/ajmg.a.34226","volume":"155A","author":"A Veerapandiyan","year":"2011","unstructured":"Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, et al. Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. Am J Med Genet A. 2011;155A(9):2186\u201395.","journal-title":"Am J Med Genet A"},{"issue":"5","key":"213_CR54","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1111\/j.1399-0004.2009.01234.x","volume":"76","author":"GM Repetto","year":"2009","unstructured":"Repetto GM, Guzm\u00e1n ML, Puga A, Calder\u00f3n JF, Astete CP, Aracena M, et al. Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients. Clin Genet. 2009;76(5):465\u201370.","journal-title":"Clin Genet"},{"issue":"5","key":"213_CR55","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1597\/1545-1569_1997_034_0425_cmocaf_2.3.co_2","volume":"34","author":"I Kitano","year":"1997","unstructured":"Kitano I, Park S, Kato K, Nitta N, Takato T, Susami T. Craniofacial morphology of conotruncal anomaly face syndrome. Cleft Palate Craniofac J. 1997;34(5):425\u20139.","journal-title":"Cleft Palate Craniofac J"},{"issue":"3","key":"213_CR56","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/j.ijporl.2008.10.011","volume":"73","author":"SC Butts","year":"2009","unstructured":"Butts SC. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. 2009;73(3):343\u201350.","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"1","key":"213_CR57","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<8::AID-AJMG2>3.0.CO;2-#","volume":"91","author":"RE Ward","year":"2000","unstructured":"Ward RE, Jamison PL, Allanson JE. Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes. Am J Med Genet. 2000;91(1):8\u201317.","journal-title":"Am J Med Genet"},{"issue":"1","key":"213_CR58","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.ridd.2012.07.025","volume":"34","author":"B Sinderberry","year":"2013","unstructured":"Sinderberry B, Brown S, Hammond P, Stevens AF, Schall U, Murphy DG, et al. Subtypes in 22q11.2 deletion syndrome associated with behaviour and neurofacial morphology. Res Dev Disabil. 2013;34(1):116\u201325.","journal-title":"Res Dev Disabil"},{"issue":"5","key":"213_CR59","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1002\/mgg3.84","volume":"2","author":"AF Goodwin","year":"2014","unstructured":"Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, et al. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014;2(5):422\u20139.","journal-title":"Mol Genet Genomic Med"},{"issue":"5","key":"213_CR60","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1002\/humu.22054","volume":"33","author":"P Hammond","year":"2012","unstructured":"Hammond P, Suttie M. Large-scale objective phenotyping of 3D facial morphology. Hum Mutat. 2012;33(5):817\u201325.","journal-title":"Hum Mutat"},{"issue":"5","key":"213_CR61","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1007\/BF00223856","volume":"95","author":"F Amati","year":"1995","unstructured":"Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, et al. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet. 1995;95(5):479\u201382.","journal-title":"Hum Genet"},{"issue":"2","key":"213_CR62","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/S1058-9813(02)00032-2","volume":"15","author":"HH Ardinger","year":"2002","unstructured":"Ardinger HH, Ardinger RH Jr. Clinical presentation of velo-cardio-facial syndrome. Prog Pediatr Cardiol. 2002;15(2):93\u20137.","journal-title":"Prog Pediatr Cardiol"},{"issue":"6","key":"213_CR63","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1007\/s00431-013-2240-z","volume":"173","author":"A Habel","year":"2014","unstructured":"Habel A, Herriot R, Kumararatne D, Allgrove J, Baker K, Baxendale H, et al. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr. 2014;173(6):757\u201365.","journal-title":"Eur J Pediatr"},{"issue":"1","key":"213_CR64","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1097\/00125817-200101000-00007","volume":"3","author":"MC Digilio","year":"2001","unstructured":"Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B. Auxological evaluation in patients with DiGeorge\/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet Med. 2001;3(1):30\u20133.","journal-title":"Genet Med"},{"issue":"5","key":"213_CR65","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1542\/peds.101.5.929","volume":"101","author":"SA Weinzimer","year":"1998","unstructured":"Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang T. Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype. Pediatrics. 1998;101(5):929\u201332.","journal-title":"Pediatrics."},{"issue":"8","key":"213_CR66","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1002\/jez.b.21430","volume":"316","author":"PN Gonzalez","year":"2011","unstructured":"Gonzalez PN, Oyhenart EE, Hallgr\u00edmsson B. Effects of environmental perturbations during postnatal development on the phenotypic integration of the skull. J Exp Zool B Mol Dev Evol. 2011;316(8):547\u201361.","journal-title":"J Exp Zool B Mol Dev Evol"},{"issue":"2","key":"213_CR67","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1111\/ede.12025","volume":"15","author":"PN Gonzalez","year":"2013","unstructured":"Gonzalez PN, Kristensen E, Morck DW, Boyd S, Hallgr\u00edmsson B. Effects of growth hormone on the ontogenetic allometry of craniofacial bones. Evol Dev. 2013;15(2):133\u201345.","journal-title":"Evol Dev"},{"issue":"9","key":"213_CR68","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1080\/14737159.2017.1360766","volume":"17","author":"G Calcagni","year":"2017","unstructured":"Calcagni G, Unolt M, Digilio MC, Baban A, Versacci P, Tartaglia M, et al. Congenital heart disease and genetic syndromes: new insights into molecular mechanisms. Expert Rev Mol Diagn. 2017;17(9):861\u201370.","journal-title":"Expert Rev Mol Diagn"},{"issue":"3","key":"213_CR69","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1038\/85845","volume":"27","author":"LA Jerome","year":"2001","unstructured":"Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001;27(3):286\u201391.","journal-title":"Nat Genet"},{"issue":"3","key":"213_CR70","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.spen.2007.07.005","volume":"14","author":"BN Hay","year":"2007","unstructured":"Hay BN. Deletion 22q11: spectrum of associated disorders. Semin Pediatr Neurol. 2007;14(3):136\u20139.","journal-title":"Semin Pediatr Neurol"},{"key":"213_CR71","first-page":"14","volume":"42","author":"G Bossi","year":"2016","unstructured":"Bossi G, Gertosio C, Meazza C, Farello G, Bozzola M. Failure to thrive as presentation in a patient with 22q11.2 microdeletion. Ital. J Pediatr. 2016;42:14.","journal-title":"J Pediatr"},{"issue":"20","key":"213_CR72","first-page":"4369","volume":"25","author":"G Lania","year":"2016","unstructured":"Lania G, Bresciani A, Bisbocci M, Francone A, Colonna V, Altamura S, et al. Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome. Hum Mol Genet. 2016;25(20):4369\u201375.","journal-title":"Hum Mol Genet"},{"issue":"11","key":"213_CR73","doi-asserted-by":"publisher","first-page":"1886","DOI":"10.1016\/j.ijporl.2015.08.038","volume":"79","author":"CS M\u00e1rquez-\u00c1vila","year":"2015","unstructured":"M\u00e1rquez-\u00c1vila CS, Vizca\u00edno-Alarc\u00f3n A, Garc\u00eda-Delgado C, N\u00fa\u00f1ez-Mart\u00ednez PM, Flores-Ram\u00edrez F, Reyes-de la Rosa Ae P, et al. Velocardiofacial syndrome in Mexican patients: unusually high prevalence of congenital heart disease. Int J Pediatr Otorhinolaryngol. 2015;79(11):1886\u201391.","journal-title":"Int J Pediatr Otorhinolaryngol"}],"container-title":["Head &amp; Face Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13005-019-0213-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13005-019-0213-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13005-019-0213-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T21:38:01Z","timestamp":1695505081000},"score":1,"resource":{"primary":{"URL":"https:\/\/head-face-med.biomedcentral.com\/articles\/10.1186\/s13005-019-0213-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":73,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["213"],"URL":"https:\/\/doi.org\/10.1186\/s13005-019-0213-9","relation":{},"ISSN":["1746-160X"],"issn-type":[{"type":"electronic","value":"1746-160X"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"12 August 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 November 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study protocol was approved by the ethics committee of Hospital Infantil de M\u00e9xico Federico G\u00f3mez (register number HIM\/069\/2010), including a parental consent.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"29"}}