Oculo-auriculo-vertebral spectrum and maternal drug ingestion: cause or coincidence?

References

• Gorlin RJ, Jue KL, Jacobsen U, et al. Oculoauriculovertebral dysplasia. J Pediatr. 1963;63:991–999.
   PubMed Web of Science ®Google Scholar
• Mastroiacovo P, Corchia C, Botto LD, et al. Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. J Med Genet. 1995;32(6):453–457.
   PubMed Web of Science ®Google Scholar
• Stoll C, Roth MP, Dott B, et al. Discordance for skeletal and cardiac defect in monozygotic twins. Acta Genet Med Gemellol. 1984;33(3):501–504.
   PubMedGoogle Scholar
• Poswillo D. Otomandibular deformity: pathogenesis as a guide to reconstruction. J Maxillofac Surg. 1974;2(2–3):64–72.
   PubMedGoogle Scholar
• Tasse C, Böhringer S, Fischer S, et al. D. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48(4):397–411.
   PubMed Web of Science ®Google Scholar
• Rooryck C, Souakri N, Cailley D, et al. Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum. Am J Med Genet A. 2010;152A(8):1984–1989.
   PubMed Web of Science ®Google Scholar
• Engiz O, Balci S, Unsal M, et al. 31 Cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. Genet Couns. 2007;18(3):277–288.
   PubMedGoogle Scholar
• Szabo-Rogers HL, Smithers LE, Yakob W, et al. New directions in craniofacial morphogenesis. Dev Biol. 2010;341(1):84–94.
   PubMed Web of Science ®Google Scholar
• Chai Y, Maxson RE. Recent advances in craniofacial morphogenesis. Dev Dyn. 2006;235(9):2353–2375.
   PubMed Web of Science ®Google Scholar
• Minoux M, Rijli FM. Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development. Development. 2010;137(16):2605–2621.
   PubMed Web of Science ®Google Scholar
• Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et al. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. J Med Genet. 2014;51(10):635–645.
   PubMed Web of Science ®Google Scholar
• Brotto D, Manara R, Vio S, et al. Salivary glands abnormalities in oculo-auriculo-vertebral spectrum. Clin Oral Invest. 2018;22(1):395–400.
   PubMed Web of Science ®Google Scholar
• Davide B, Renzo M, Sara G, et al. Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement. Neuroradiology. 2017;59(3):305–316.
   PubMed Web of Science ®Google Scholar
• Manara R, Brotto D, Ghiselli S, et al. Cranial nerve abnormalities in oculo-auriculo-vertebral spectrum. Am J Neuroradiol. 2015;36(7):1375–1380.
   PubMed Web of Science ®Google Scholar
• Grabb WC. The first and second branchial arch syndrome. Plast Reconstr Surg. 1965;36(5):485–508.
   PubMedGoogle Scholar
• Brandstetter KA, Patel KG. Craniofacial microsomia. Facial Plast Surg Clin North Am. 2016;24(4):495–515.
   PubMed Web of Science ®Google Scholar
• Kaye CI, Martin AO, Rollnick BR, et al. Oculoauriculovertebral anomaly: segregation analysis. Am J Med Genet. 1992;43(6):913–917.
   PubMed Web of Science ®Google Scholar
• Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol. 2009;18(2):67–77.
   PubMed Web of Science ®Google Scholar
• Werler M, Sheehan JE, Hayes C, et al. Vasoactive exposures, vascular events, and hemifacial microsomia. Birth Defects Res A Clin Mol Teratol. 2004;70(6):389–395.
   PubMedGoogle Scholar
• Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia). Orthod Craniofac Res. 2007;10(3):121–128.
   PubMed Web of Science ®Google Scholar
• Wieczorek D, Ludwig M, Boehringer S, et al. Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/goldenhar syndrome. Hum Genet. 2007;121(3–4):369–376.
   PubMed Web of Science ®Google Scholar
• Balci S, Engiz O, Alikasifoglu M, et al. Association of assisted reproductive technology with twinning and congenital anomalies. Indian J Pediatr. 2008;75(6):638–640.
   PubMed Web of Science ®Google Scholar
• Ewart-Toland A, Yankowitz J, Winder A, et al. Oculoauriculovertebral abnormalities in children of diabetic mothers. Am J Med Genet. 2000;90(4):303–309.
   PubMed Web of Science ®Google Scholar
• Rollnick BR, Kaye CI, Nagatoshi K, et al. Oculo-auriculo-vertebral dysplasia and variants: phenotipic characteristics of 294 patients. Am J Med Genet. 1987;26(2):361–375.
   PubMedGoogle Scholar
• Strömland K, Miller M, Sjögreen L, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible development risk factors. Am J Med Genet A. 2007;143A(12):1317–1325.
   PubMed Web of Science ®Google Scholar
• Marx H. Die missbildungen des ohres. Die krankheiten des gehörorgans. Berlin, Heidelberg: Springer; 1926. p. 131–169.
   Google Scholar
• Brent RI. The cause and prevention of human birth defects: what have we learned in the past 50 years? Congenit Anom (Kyoto). 2001;41(1):3–21.
   Google Scholar
• Lo w, Friedman JM. Teratogenicity of recently introduced medications in human pregnancy. Obstet Gynecol. 2002;100(3):465–473.
   PubMed Web of Science ®Google Scholar
• Chantal F, Yunis K, Mikati M, et al. Goldenhar syndrome associated with prenatal maternal fluoxetine ingestion: Cause or coincidence? Birth Defects Res A Clin Mol Teratol. 2010;88(7):582–585.
   PubMedGoogle Scholar
• Gorlin RJ, Cohen MM, Levin LS. Branchial arch and oro-acral disorders. In: Carey JC, ed. Syndromes of the head and neck. 4th ed. New York: Oxford University Press; 2001. p. 101–114.
   Google Scholar
• Kerckoff V, Retamoza B, Bautista A. Diabetic mother’s newborn with Goldenhar syndrome and cerebral malformations. Case report. Ginecol Obstet Mex. 2008;76(11):691–694.
   PubMedGoogle Scholar
• Wang R, Martínez-Frías ML, Graham JM. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. J Pediatr. 2002;141(5):611–617.
   PubMed Web of Science ®Google Scholar
• Gharehbaghi MM, Ghaemi M. Goldenhar syndrome in an infant of diabetic mother. Iran J Pediatr. 2010;20(1):131–134.
   PubMed Web of Science ®Google Scholar
• Kallen BA, Olausson PO. Use of oral decongestants during pregnancy and delivery outcome. Am J Obstet Gynecol. 2006;194(2):480–485.
   PubMed Web of Science ®Google Scholar
• Yau WP, Mitchell AA, Lin KJ, et al. Use of decongestants during pregnancy and the risk of birth defects. Am J Epidemiol. 2013;178(2):198–208.
   PubMed Web of Science ®Google Scholar
• Waller DK, Gallaway MS, Taylor L, National Birth Defects Prevention Study, et al. Use of oral contraceptives in pregnancy and major structural birth defects in offspring. Epidemiology. 2010;21(2):232–239.
   PubMed Web of Science ®Google Scholar
• Czeizel AE, Kodaj I. A changing pattern in the association of oral contraceptives and the different groups of congenital limb deficiencies. Contraception. 1995;51(1):19–24.
   PubMed Web of Science ®Google Scholar
• Charlton BM, Mølgaard-Nielsen D, Svanström H, et al. Maternal use of oral contraceptives and risk of birth defects in Denmark: prospective, nationwide cohort study. BMJ. 2016;6:h6712.
   Google Scholar
• Samadi A, Skocic J, Rovet FF. Children born to women treated for hypothyroidism during pregnancy show abnormal corpus callosum development. Thyroid. 2015;25(5):494–502.
   PubMed Web of Science ®Google Scholar
• Grattan MJ, Thomas SD, Hornberger LK, et al. Maternal hypothyroidism may be associated with CHD in offspring. Cardiol Young. 2015;25(7):1247–1253.
   PubMed Web of Science ®Google Scholar
• Lammer E, Chen D, Hoar R, et al. Retinoic acid embryopathy. N Engl J Med. 1985;313(14):837–841.
   PubMed Web of Science ®Google Scholar
• Kernaghan D, Duncan AC, McKay GA. Hypertension in pregnancy: a review of therapeutic options. Obstet Med. 2012;5(2):44–49.
   PubMedGoogle Scholar
• Cooper WO, Hernandez-Diaz S, Arbogast PG, et al. Major congenital malformations after first-trimester exposure to ACE inhibitors. N Engl J Med. 2006;354(23):2443–2451.
   PubMed Web of Science ®Google Scholar
• Bateman BT, Patorno E, Desai RJ, et al. Angiotensin-converting enzyme inhibitors and the risk of congenital malformations. Obstet Gynecol. 2017;129(1):174–184.
   PubMed Web of Science ®Google Scholar
• Hayward K, Cline A, Stephens A, et al. Management of herpes zoster (shingles) during pregnancy. J Obstet Gynaecol. 2018;38(7):887–894.
   PubMedGoogle Scholar
• Pasternak B, Hviid A. Use of acyclovir, valacyclovir, and famciclovir in the first trimester of pregnancy and the risk of birth defects. J Am Med Assoc. 2010;304(8):859–866.
   PubMed Web of Science ®Google Scholar
• Stone KM, Reiff-Eldridge R, White AD, et al. Pregnancy outcomes following systemic prenatal acyclovir exposure: conclusions from the international acyclovir pregnancy registry, 1984–1999. Birth Defects Res A Clin Mol Teratol. 2004;70(4):201–207.
   PubMed Web of Science ®Google Scholar
• Choi JS, Han JY, Ahn HK, et al. Fetal and neonatal outcomes in women taking domperidone during pregnancy. J Obstet Gynaecol. 2013;33(2):160–162.
   PubMedGoogle Scholar