Alasti F, Van Camp G (2009) Genetics of microtia and associated syndromes. J Med Genet 46:361–369. https://doi.org/10.1136/jmg.2008.062158
Article CAS PubMed Google Scholar
Andrews J, Hohman MH (2023) Ear microtia. StatPearls Publishing, StatPearls (Copyright©2023, StatPearls Publishing LLC., Treasure Island (FL) ineligible companies. Disclosure: Marc Hohman declares no relevant financial relationships with ineligible companies)
Bartel-Friedrich S (2015) Congenital auricular malformations: description of anomalies and syndromes. Facial Plast Surg 31:567–580. https://doi.org/10.1055/s-0035-1568139
Article CAS PubMed Google Scholar
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM (2011) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 48:334–342. https://doi.org/10.1136/jmg.2010.087106
Article CAS PubMed Google Scholar
Correa A, Gilboa SM, Besser LM, Botto LD, Moore CA, Hobbs CA, Cleves MA, Riehle-Colarusso TJ, Waller DK, Reece EA (2008) Diabetes mellitus and birth defects. Am J Obstet Gynecol 199:237.e1–9. https://doi.org/10.1016/j.ajog.2008.06.028
Article CAS PubMed Google Scholar
Dong X, Liu B, Yang L, Wang H, Wu B, Liu R, Chen H, Chen X, Yu S, Chen B, Wang S, Xu X, Zhou W, Lu Y (2020) Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort. J Med Genet 57:558–566. https://doi.org/10.1136/jmedgenet-2019-106377
Article CAS PubMed Google Scholar
Huang Z, Xiao F, Xiao H, Lu Y, Yang L, Zhuang D, Chen L, Wei Q, Jiang Y, Li G, Wu B, Liu Z, Zhou W, Wang H (2023) Comparison of genetic profiles of neonates in intensive care units conceived with or without assisted reproductive technology. JAMA Netw Open 6:e236537. https://doi.org/10.1001/jamanetworkopen.2023.6537
Article PubMed PubMed Central Google Scholar
Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y (2014) Treacher Collins syndrome: the genetics of a craniofacial disease. Int J Pediatr Otorhinolaryngol 78:893–898. https://doi.org/10.1016/j.ijporl.2014.03.006
Li Q, Zhou X, Wang Y, Qian J, Zhang Q (2018) Auricular reconstruction of congenital microtia by using the modified Nagata method: personal 10-year experience with 1350 cases. J Plast Reconstr Aesthet Surg 71:1462–1468. https://doi.org/10.1016/j.bjps.2018.05.036
Li Z, Zhang F, Wang Y, Qiu Y, Wu Y, Lu Y, Yang L, Qu WJ, Wang H, Zhou W, Tian W (2019) PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease. Bioinformatics 35:3559–3566. https://doi.org/10.1093/bioinformatics/btz100
Article CAS PubMed Google Scholar
Liu C, Wo P, Zhang J, Li J (2022a) Nonsurgical molding of congenital auricular deformities and analysis of the correction outcomes: a single-center, retrospective study in east China. Front Pediatr 10:1031575. https://doi.org/10.3389/fped.2022.1031575
Article PubMed PubMed Central Google Scholar
Liu W, Wang Q, Guo Y, Lin L, Yang Q, Jiang H (2022b) Whole-genome sequencing identifies two novel rare mutations in BMP5 and BMP2 in monozygotic twins with microtia. J Craniofac Surg 33:e212–e217. https://doi.org/10.1097/scs.0000000000007689
Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC (2012) Microtia: epidemiology and genetics. Am J Med Genet A 158A:124–139. https://doi.org/10.1002/ajmg.a.34352
Ma J, Zhou WH (2022) Genetic characteristics of microtia-associated syndromes in neonates. Zhongguo Dang Dai Er Ke Za Zhi 24:614–619. https://doi.org/10.7499/j.issn.1008-8830.2203008
Ma C, Shaw GM, Scheuerle AE, Canfield MA, Carmichael SL (2012) Association of microtia with maternal nutrition. Birth Defects Res A Clin Mol Teratol 94:1026–1032. https://doi.org/10.1002/bdra.23053
Article CAS PubMed Google Scholar
Martin CL, Ledbetter DH (2017) Chromosomal microarray testing for children with unexplained neurodevelopmental disorders. JAMA 317:2545–2546. https://doi.org/10.1001/jama.2017.7272
Article PubMed PubMed Central Google Scholar
Petersson RS, Recker CA, Martin JR, Driscoll CL, Friedman O (2012) Identification of congenital auricular deformities during newborn hearing screening allows for non-surgical correction: a Mayo Clinic pilot study. Int J Pediatr Otorhinolaryngol 76:1406–1412. https://doi.org/10.1016/j.ijporl.2012.06.011
Qiu YY, Zhang HS, Tang Y, Liu FY, Pang JQ, Zhang XY, Xiong H, Liang YS, Zhao HY, Chen SJ (2021) Mitochondrial dysfunction resulting from the down-regulation of bone morphogenetic protein 5 may cause microtia. Ann Transl Med 9:418. https://doi.org/10.21037/atm-21-831
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL (2020) Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med 22:245–257. https://doi.org/10.1038/s41436-019-0686-8
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C (2017) Rapid targeted genomics in critically ill newborns. Pediatrics. https://doi.org/10.1542/peds.2016-2854
Wang P, Wang Y, Fan X, Liu Y, Fan Y, Liu T, Chen C, Zhang S, Chen X (2019) Identification of sequence variants associated with severe microtia-astresia by targeted sequencing. BMC Med Genom 12:28. https://doi.org/10.1186/s12920-019-0475-x
Wang H, Xiao F, Dong X, Lu Y, Cheng G, Wang L, Lu W, Yang L, Chen L, Kang W, Li L, Pan X, Wei Q, Zhuang D, Chen D, Yin Z, Yang L, Ni Q, Liu R, Li G, Zhang P, Qian Y, Li X, Peng X, Wang Y, Liu F, Wang D, Li H, Shen C, Qian L, Cao Y, Wu B, Zhou W (2021) Diagnostic and clinical utility of next-generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project. Hum Mutat 42:434–444. https://doi.org/10.1002/humu.24170
Article CAS PubMed Google Scholar
Wang H, Xiao F, Qian Y, Wu B, Dong X, Lu Y, Cheng G, Wang L, Yan K, Yang L, Chen L, Kang W, Li L, Pan X, Wei Q, Zhuang D, Chen D, Yin Z, Yang L, Ni Q, Liu R, Li G, Zhang P, Li X, Peng X, Wang Y, Chen H, Ma X, Liu F, Cao Y, Huang G, Zhou W (2023) Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project. J Med Genet 60:247–253. https://doi.org/10.1136/jmedgenet-2021-108354
Xiao F, Yan K, Wang H, Wu B, Hu L, Yang L, Zhou W (2021) Protocol of the China Neonatal Genomes Project: an observational study about genetic testing on 100,000 neonates. Pediatr Med. https://doi.org/10.21037/pm-21-29
Xiao F, Yan K, Tang M, Ji X, Hu L, Yang L, Zhou W (2022) Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis. Expert Rev Mol Diagn 22:833–840. https://doi.org/10.1080/14737159.2022.2123704
Article CAS PubMed Google Scholar
Ye C, Mei H, Chen H, Dong X, Lu Y, Wu B, Wang H, Hu L, Cheng G, Zhou W, Yang L (2022) Molecular genetic analysis of newborns with congenital microcephaly. Neonatology 119:455–463. https://doi.org/10.1159/000525073
Article CAS PubMed Google Scholar
Zhang Y, Jiang H, Yang Q, He L, Yu X, Huang X, Wu R, Yang M, Li C, Pan B (2018) Microtia in a Chinese specialty clinic population: clinical heterogeneity and associated congenital anomalies. Plast Reconstr Surg 142:892e–903e. https://doi.org/10.1097/prs.0000000000005066
Article CAS PubMed Google Scholar
Zhang C, An L, Xue H, Hao S, Yan Y, Zhang Q, Jin X, Li Q, Zhou B, Feng X, Ma P, Wang X, Chen X, Chen C, Cao Z, Ma X (2021) Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients. J Clin Lab Anal 35:e23567. https://doi.org/10.1002/jcla.23567
Comments (0)