VACTERL association represents a rare condition with a broad spectrum of coexisting congenital
abnormalities. Although a multifactorial origin has been described, the
etiology is still unclear. Prenatal diagnosis can be challenging, as specific
characteristics may be difficult to be determined before birth. This case report describes the
finding of multiple congenital abnormalities in a male fetus at 30 weeks of
gestation. The most notable findings were the presence of duodenal stenosis,
esophageal atresia with distal tracheoesophageal fistula (type 3), interatrial
septal communication foramen ovale, and left nostril and choana agenesis. After
birth and making a broad differential diagnosis, all these characteristics
oriented the diagnosis towards the VACTERL association. To the best of our
knowledge, no cases of VACTERL association and unilateral nostril and choana
agenesis have been previously described.
References
[1]
Pariza, P.C., Stavarache, I., Dumitru, V.A., Munteanu, O., Georgescu, T.A., Varlas, V., et al. (2021) VACTERL Association in a Fetus with Multiple Congenital Malformations—Case Report. Journal of Medicine and Life, 14, 862-867.
https://doi.org/10.25122/jml-2021-0346
[2]
Lubinsky, M. (2015) The VACTERL Association as a Disturbance of Cell Fate Determination: Lubinsky VACTERL and Cell Fate. American Journal of Medical Genetics Part A, 167A, 2582-2588. https://doi.org/10.1002/ajmg.a.37238
[3]
Chen, Y., Liu, Z., Chen, J., Zuo, Y., Liu, S., Chen, W., et al. (2016) The Genetic Landscape and Clinical Implications of Vertebral Anomalies in VACTERL Association. Journal of Medical Genetics, 53, 431-437.
https://doi.org/10.1136/jmedgenet-2015-103554
[4]
Santos, J., Nogueira, R., Pinto, R., Cerveira, I. and Pereira, S. (2013) First Trimester Diagnosis of VACTERL Association. Clinics and Practice, 3, e5.
https://doi.org/10.4081/cp.2013.e5
[5]
Solomon, B.D., Raam, M.S. and Pineda-Alvarez, D.E. (2011) Analysis of Genitourinary Anomalies in Patients with VACTERL (Vertebral Anomalies, Anal Atresia, Cardiac Malformations, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Abnormalities) Association: GU Anomalies in VACTERL Association. Congenital Anomalies, 51, 87-91. https://doi.org/10.1111/j.1741-4520.2010.00303.x
[6]
Shulman, A., Mazkereth, R., Zalel, Y., Kuint, J., Lipitz, S., Avigad, I., et al. (2002) Prenatal Identification of Esophageal Atresia: The Role of Ultrasonography for Evaluation of Functional Anatomy. Prenatal Diagnosis, 22, 669-674.
https://doi.org/10.1002/pd.375
[7]
Solomon, B.D., Bear, K.A., Kimonis, V., de Klein, A., Scott, D.A., Shaw-Smith, C., et al. (2012) Clinical Geneticists’ Views of VACTERL/VATER Association. American Journal of Medical Genetics Part A, 158A, 3087-3100.
https://doi.org/10.1002/ajmg.a.35638
[8]
Fujishiro, E., Suzuki, Y., Sato, T., Kondo, S., Miyachi, M. and Suzumori, K. (2004) Characteristic Findings for Diagnosis of Baby Complicated with Both the VACTERL Association and Duodenal Atresia. Fetal Diagnosis and Therapy, 19, 134-137.
https://doi.org/10.1159/000075137
[9]
del Carmen Navas-Aparicio, M. and Mora-Mesén, C. (2017) Nasal Agenesis and Other Facial Malformations: Report of a Case of Congenital Anomaly and Literature Review. Acta Otorrinolaringologica, 68, 294-296.
https://doi.org/10.1016/j.otoeng.2017.08.002
[10]
Carli, D., Garagnani, L., Lando, M., Fairplay, T., Bernasconi, S., Landi, A., et al. (2014) VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement. The Journal of Pediatrics, 164, 458-462.e1-2.
https://doi.org/10.1016/j.jpeds.2013.09.033
[11]
Morgan, R.D., O’Callaghan, J.M., Wagener, S., Grant, H.W. and Lakhoo, K. (2012) Surgical Correction of Tracheo-Oesophageal Fistula and Oesophageal Atresia in Infants with VACTERL Association: A Retrospective Case-Control Study. Pediatric Surgery International, 28, 967-970. https://doi.org/10.1007/s00383-012-3165-8
