Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum
Wilker Dias Martins; Elisa França Chaves; Flavia Cristina Gonçalves de Aquino; Sean Brasil de Oliveira; Isabela Dorneles Pasa; Bruno Guimarães Marcarini; Vitor Ribeiro Paes; Chong Ae Kim; Regina Schultz
Abstract
Keywords
References
1 Kepple JW, Fishler KP, Peeples ES. Surveillance guidelines for children with trisomy 13. Am J Med Genet A. 2021;185(5):1631-7.
2 Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extra autosome. Lancet. 1960;275(7128):790-3.
3 Wang KH, Kupa J, Duffy KA, Kalish JM. Diagnosis and management of Beckwith-Wiedemann Syndrome. Front Pediatr. 2020;7:562.
4 Brioude F, Kalish JM, Mussa A, et al. Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 2018;14(4):229-49.
5 Mussa A, Di Candia S, Russo S, et al. Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. Eur J Med Genet. 2016;59(1):52-64.
6 Matsumoto N, Kobayashi N, Uda N, Hirota M, Kawasaki H. Pathophysiological analyses of leptomeningeal heterotopia using gyrencephalic mammals. Hum Mol Genet. 2018;27(6):985-91.
7 Raymond AA, Fish DR, Stevens JM, Sisodiya SM, Alsanjari N, Shorvon SD. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry. 1994;57(10):1195-202.
8 Aghakhani Y, Kinay D, Gotman J, et al. The role of periventricular nodular heterotopia in epileptogenesis. Brain. 2005;128(3):641-51.
9 Ligon KL, Echelard Y, Assimacopoulos S, et al. Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia. Development. 2003;130(10):2275-87.
10 Zenker M, Mohnike K, Palm K. Syndromic forms of congenital hyperinsulinism. Front Endocrinol. 2023;14:1013874.
11 Tamame T, Hori N, Homma H, et al. Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13. Am J Med Genet A. 2004;129A(3):321-2.
12 Bastug O, Ozturk MA, Dogan MS, et al. The presence of adrenomegaly and transient hyperinsulinemic hypoglycemia in a newborn with trisomy 13: association or coincidence? J Clin Neonatol. 2015;4(1):57-9.
13 Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010;18(1):8-14.
14 Taweevisit M, Atikankul T, Thorner PS. Histologic changes in the adrenal gland reflect fetal distress in hydrops fetalis. Pediatr Dev Pathol. 2014;17(3):190-7.
15 Craig JM, Landing BH. Anaplastic cells of fetal adrenal cortex. Am J Clin Pathol. 1951;21(10):940-9.
Submitted date:
01/21/2024
Accepted date:
03/25/2024
Publication date:
05/08/2024