A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia

References

• Kallen B, Robert E, Harris J. The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol. 1996;25:1009–1016.
   PubMed Web of Science ®Google Scholar
• Kallen B, Tornqvist K. The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol. 2005;20:345–350.
   PubMed Web of Science ®Google Scholar
• Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75:497–504.
   PubMed Web of Science ®Google Scholar
• Forrester MB, Merz RD. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001. Birth Defects Res A Clin Mol Teratol. 2006;76(3):187–192.
   PubMed Web of Science ®Google Scholar
• Chambers TM, Agopian AJ, Lewis RA, et al. Epidemiology of anophthalmia and microphthalmia: prevalence and patterns in Texas, 1999-2009. Am J Med Genet A. 2018;176(9):1810–1818.
   PubMed Web of Science ®Google Scholar
• de Verdier K, Ulla E, Lofgren S, Fernell E. Children with blindness - major causes, developmental outcomes and implications for habilitation and educational support: a two-decade, Swedish population-based study. Acta Ophthalmol. 2018;96:295–300.
   PubMed Web of Science ®Google Scholar
• Galindo-Ferreiro A, Elkhamary SM, Alhammad F, et al. Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital. Orbit. 2019;38(3):192–198.
   PubMed Web of Science ®Google Scholar
• Shah CT, Hughes MO, Kirzhner M. Anophthalmic syndrome: a review of management. Ophthalmic Plast Reconstr Surg. 2014;30:361–365.
   PubMed Web of Science ®Google Scholar
• Stoll C, Dott B, Alembik Y, Roth MP. Associated malformations among infants with anophthalmia and microphthalmia. Birth Defects Res A Clin Mol Teratol. 2012;94(3):147–152.
   PubMedGoogle Scholar
• You T, Lv Y, Liu S, et al. Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family. Acta Ophthalmol. 2012;90(6):e501–502.
   PubMed Web of Science ®Google Scholar
• Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. 2005;137:36–40.
   PubMedGoogle Scholar
• Khoury MJ, James LM, Erickson JD. On the measurement and interpretation of birth defect associations in epidemiologic studies. Am J Med Genet. 1990;37:229–236.
   PubMed Web of Science ®Google Scholar
• Benjamin RH, Yu X, Navarro Sanchez ML, et al. Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. Birth Defects Res. 2019;111(18):1356–1364.
   PubMedGoogle Scholar
• Appendix A: ICD-9 and CDC/BPA codes. Teratology. 2002;66(Suppl 1):S218–219. the “National Center on Birth Defects and Developmental Disabilities, CDC”.
   PubMedGoogle Scholar
• Harris BS, Bishop KC, Kemeny HR, Walker JS, Rhee E, Kuller JA. Risk factors for birth defects. Obstet Gynecol Surv. 2017;72:123–135.
   PubMed Web of Science ®Google Scholar
• Zhang XH, Qiu LQ, Huang JP. Risk of birth defects increased in multiple births. Birth Defects Res A Clin Mol Teratol. 2011;91(1):34–38.
   PubMedGoogle Scholar
• Harding P, Moosajee M. The molecular basis of human anophthalmia and microphthalmia. J Dev Biol. 2019;7:3.
   Web of Science ®Google Scholar
• Rasmussen SA, Olney RS, Holmes LB, Lin AE, Keppler-Noreuil KM, Moore CA. Guidelines for case classification for the national birth defects prevention study. Birth Defects Res A Clin Mol Teratol. 2003;67(3):193–201.
   PubMed Web of Science ®Google Scholar
• Gu Z, Gu L, Eils R, Schlesner M, Brors B. circlize Implements and enhances circular visualization in R. Bioinformatics. 2014;30:2811–2812.
   PubMed Web of Science ®Google Scholar
• Spranger J, Benirschke K, Hall JG, et al. Errors of morphogenesis: concepts and terms. Recommendations of an international working group. J Pediatr. 1982;100(1):160–165.
   PubMed Web of Science ®Google Scholar
• Leichtman LG, Wood B, Rohn R. Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. Am J Med Genet. 1994;50:39–41.
   PubMed Web of Science ®Google Scholar
• Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R. Anophthalmia-plus syndrome: a clinical report and review of the literature. Am J Med Genet A. 2007;143a:64–68.
   PubMed Web of Science ®Google Scholar
• Chassaing N, Sorrentino S, Davis EE, et al. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012;49(6):373–379.
   PubMed Web of Science ®Google Scholar
• Pineda-Alvarez DE, Solomon BD, Roessler E, et al. A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet A. 2011;155a(11):2713–2720.
   PubMed Web of Science ®Google Scholar
• Khoury MJ, Cordero JF, Mulinare J, Opitz JM. Selected midline defect associations: a population study. Pediatrics. 1989;84:266–272.
   PubMed Web of Science ®Google Scholar
• Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet. 1992;42:793–799.
   PubMed Web of Science ®Google Scholar
• Li C, Marles SL, Greenberg CR, et al. Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007;143a(8):853–857.
   PubMed Web of Science ®Google Scholar
• Slavotinek AM, Baranzini SE, Schanze D, et al. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011;48(6):375–382.
   PubMed Web of Science ®Google Scholar
• Coletă E, Siminel M, Gheonea M. Holoprosencephaly sequence. Rom J Morphol Embryol. 2011;52:725–728.
   PubMed Web of Science ®Google Scholar
• Grigore M, Furnica C, Esanu I, Gafitanu D. Pentalogy of Cantrell associated with unilateral anophthalmia: case report and literature review. Medicine (Baltimore). 2018;97:e11511.
   PubMed Web of Science ®Google Scholar
• Kariminejad A, Ghaderi-Sohi S, Kariminejad MH, Lachman R. An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome. Fetal Pediatr Pathol. 2012;31:295–299.
   PubMed Web of Science ®Google Scholar
• Ríos-Méndez RE, Lozano Chinga MM. Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report. Medwave. 2016;16:e6568.
   PubMed Web of Science ®Google Scholar
• Cideciyan D, Rodriguez MM, Haun RL, Abdenour GE, Bruce JH. New findings in short rib syndrome. Am J Med Genet. 1993;46:255–259.
   PubMed Web of Science ®Google Scholar
• Kohler S, Vasilevsky NA, Engelstad M, et al. The Human Phenotype Ontology in 2017. Nucleic Acids Res. 2017;45(D1):D865–d876.
   PubMed Web of Science ®Google Scholar
• Kohler S, Schulz MH, Krawitz P, et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet. 2009;85(4):457–464.
   PubMed Web of Science ®Google Scholar