THE POSSIBILITIES OF MUSEUM STUDYING OF VACTERL SYNDROME

Abstract

The article deals with VACTERL association, particularly non randomly associated birth defects, typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. Museum collection of the Department of Pathological Anatomy of Kharkiv National Medical University, which devoted to prenatal and perinatal pathology, has numerous museum exhibits representing this pathology. The specimens help to discuss pathological anatomy of each of these defects.

KeyWords:  fetus, VACTERL, congenital defect.


Курчанова Ю.В., Івантеєва Ю.І., Гаргін В.В.

МОЖЛИВОСТІ МУЗЕЙНОГО ВИВЧЕННЯ СИНДРОМУ VACTERL

Статья посвящена синдрому VACTERL - закономерно объединенным врожденным патологиям развития. Для постановки синдрома необходимо присутствие не менее трех из следующих дефектов: аномалии позвоночника, анальная атрезия, пороки сердца, трахеопищеводный свищ, почечные аномалии и аномалии конечностей. Музейная коллекция кафедры патологической анатомии ХНМУ, посвященная пре- и перинатальной патологии, имеет множество учебных макропрепаратов, которые описывают синдром VACTERL. На их примере мы обсудим каждый характерный дефект развития.

Ключевые слова: плод, VACTERL, врожденный дефект

 

Курчанова Ю.В., Ивантеева Ю.И., Гаргин В.В.

ВОЗМОЖНОСТИ МУЗЕЙНОГО ИЗУЧЕНИЯ СИНДРОМА VACTERL

Стаття присвячена синдрому VACTERL - закономірно об'єднаним вродженим патологіям розвитку. Для постановки синдрому необхідна наявність не менше трьох з наступних дефектів: аномалії хребта, анальна атрезія, пороки серця, трахеостравоходний свищ, ниркові аномалії і аномалії кінцівок. Музейна колекція кафедри патологічної анатомії ХНМУ, присвячена пре- і перинатальній патології, має велику кількість навчальних макропрепаратів, які описують синдром VACTERL. На їхньому прикладі ми обговоримо кожен характерний дефект розвитку.

Ключові слова: плід, VACTERL, вроджений дефект


https://doi.org/10.35339/ic.3.4.201-205
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References

Quan, L., Smith, DW. (1973). The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr., 82, 104 – 107.

Solomon, B.D. (2011) VACTERL/VATER association. Orphanet J Rare Dis, 6, 56.

Bartels, E., Schulz, A.C., Mora, N. W., Pineda-Alvarez, D. E., Wijers, Ch. H. W., Marcelis, C. M.,… Reutter, H.M. (2012). VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol, 21(4), 191 – 195.

Salinas-Torres, V.M., Perez-Garcia, N., Perez-Garcia, G. (2015) Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. Indian J Pediatr, 82(1), 84-88

Raam, M.S., Pineda-Alvarez, D.E., Hadley, D.W., Solomon, B.D. (2011) Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet., 54(1), 34-41.

Lautz, T.B., Mandelia, A., Radhakrishnan, J. (2015) VACTERL associations in children undergoing surgery for esophageal atresia and anorectal malformations: Implications for pediatric surgeons. J Pediatr Surg, 50(8), 1245-1250.

Pelluard-Nehme, F., Baudet, Ch., Carles, D., Alberti, E. M., Delrue, M. A., Lacombe, D. (2007). A new case of VACTERL association with unilateral amelia of upper limb. Clinical Dysmorphology, 16,185 – 187.

Rougemont, A.-L., Bouron-Dal Soglio, D., Desilets, V., Jovanovic, M., Perreault, G., Oligny, L. L., Fournet, J. - Ch. (2008). Caudal Dysgenesis, Sirenomelia, and Situs Inversus Totalis: A Primitive Defect in Blastogenesis. American Journal of Medical Genetics, 146A, 1470 – 1476.

Nikolaenko, E. U., Gargin, V. V. (2015). Sirenomelia as example of limb malformation. Inter collegas, 3, 317 - 322.

Fadhlaoui, A., Khrouf M., Gaigi, S., Zhioua F., Chaker A. (2010) The sirenomelia sequence: a case history. Clin Med Insights Case Rep, 3, 41-49.

Sepulveda, W., Martinez, J.L., Moenne, K. (2005) Sirenomelia (symelia dipus). Pediatr Radiol, 35(9), 931-933.

Tayel, S.M., Fawzia, M.M., Al-Naqeeb, N.A., Gouda, S., Al Awadi, S.A., Naguib, K.K. (2005) A morpho-etiological description of congenital limb anomalies. Ann Saudi Med, 25(3), 219-227.

Chen, Ch.-P., Chang, T.-Y., Chen, Y.-Y., Chern, S.-R., Su, J.-W., Wang, W. (2013). VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer. Taiwanese Journal of Obstetrics & Gynecology, 52, 575 - 579.

Solomon, B. D., Bear, K. A., Kimonis, V., de Klein, A., Scott, D. A., Shaw-Smith, Ch., Giampietro, Ph. F. (2012). Clinical Geneticists’ Views of VACTERL/VATER Association. Am J Med Genet, 158A(12), 3087 – 3100.

Reutter H, Ludwig M. (2013) VATER/VACTERL Association: Evidence for the Role of Genetic Factors. Mol Syndromol, 4(1-2), 16-19.

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