Diagnosis of Pentalogy of Cantrell with Craniorachischisis at 11 weeks on 2 Dimensional Ultrasound - A rare case report
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Abstract
Pentalogy of Cantrell (PC) is an extremely rare congenital malformation, with estimated incidence from 5.5 to 7.9 per million live births. Diagnosed in second trimester or beyond with first trimester detection in hand full of cases and 2 case reports at 11 weeks in literature. An unusual combination of PC with craniorachischisis, has been reported by a few at 18-26 weeks with one at 12 weeks. Ours is the first ever presented case report diagnosed as early as 11 weeks. This patient was diagnosed with PC and craniorachischisis at 11 weeks by 2D ultrasound who underwent pregnancy termination. Presence of a throracoabdominal defect at such early gestation should alert sonologists to include PC in differentials. This rare combination of dorsal and ventral midline defects occurring at a similar embryologic timeline could point to a common inciting event that needs to be further investigated.
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References
Cantrell JR, Heller RJA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet 1958;107:602-14.
Jnah AJ, Newberry DM, England A. Pentalogy of Cantrell: case report with review of the literature. Adv Neonatal Care 2015;15:261-8.
Wahab S, Sahoo B, Mittal S, Khan RA. Prenatal diagnosis of pentalogy of cantrell in a case with craniorachischisis. Curr Pediatr Res 2017;21:8-10.
Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Am J Med Genet A 2011;155:1102-05.
Toyama WM. Combined Congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium and heart: a case report and review of the syndrome. Pediatrics 1972;50:778-9.
Coleman PW, Marine MB, Weida JN, Gray BW, Billmire DF, Brown BP. Fetal MRI in the identification of a fetal ventral wall defect spectrum. Am J Perinatol Rep 2018;8:e264-e276.
Bennett TL, Burlbaw J, Drake CK, Finley BE. Diagnosis of ectopia cordis at 12 weeks gestation using transabdominal ultrasonography with color flow Doppler. J Ultrasound Med 1991;10:695-6.
Türkçapar AF, Sargın Oruc A, Öksüzoglu A, Danışman N. Diagnosis of pentalogy of cantrell in the first trimester using transvaginal sonography and color Doppler. Case Rep Obstet Gynecol 2015:2015:179298.
Kubba T, Khalil A, Abu-Rustum R, Aoun A, Scott R, Abi-Nader K, Pandya P. Prenatal diagnosis of pentalogy of Cantrell at 11-13 weeks: Evidence for a hexalogy. J Obstet Gynaecol 2013;33:85-6.
Ergenoğlu MA, Yeniel AÖ, Peker N, Kazandı M, Akercan F, Sağol S. Prenatal diagnosis of Cantrell pentalogy in first trimester screening: case report and review of literature. J Turk Ger Gynecol Assoc 2012;13:145-8.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH. Diagnosis of fetal non‐chromosomal abnormalities on routine ultrasound examination at 11-13 weeks’ gestation. Ultrasound Obstet Gynecol 2019;54:468-76.
Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH. Diagnosis of fetal defects in twin pregnancies at routine 11-13‐week ultrasound examination. Ultrasound Obstet Gynecol 2020;55:474-81.
Grigore M, Micu R, Matasariu R, Duma O, Chicea AL, Chicea R. Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review. Med Ultrason 2020;22:189-96.
Murata S, Nakata M, Sumie M, Mastsuabra M, Sugino N. Prenatal Diagnosis of Pentalogy of Cantrell With Craniorachischisis by Three-Dimensionalultrasonography in the First Trimester. Taiwan J Obstet Gynecol 2009;48:317-8.