Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report
American Journal of Pediatrics
Volume 4, Issue 4, December 2018, Pages: 100-103
Received: Oct. 24, 2018;
Accepted: Nov. 7, 2018;
Published: Dec. 3, 2018
Views 596 Downloads 54
Sam Hassan, Department of Pediatrics, Mediclinic City Hospital, Dubai, United Arab Emirates
Sameer Sajwani, Department of Pediatrics, Mediclinic City Hospital, Dubai, United Arab Emirates
Pramond Warhekar, Department of Pediatrics, Mediclinic City Hospital, Dubai, United Arab Emirates
Ghassan Nakib, Department of Pediatrics, Mediclinic City Hospital, Dubai, United Arab Emirates
Syed Rizvi, Department of Pediatrics, Mediclinic City Hospital, Dubai, United Arab Emirates
Coloboma of the iris (CI) is an embryonic condition resulted from an incomplete formation of the iris which either presented unilateral or bilateral and as a single eye defect or in association of other eye anomalies. It happens either as an isolated condition or as part of syndromic features or other associations that are well reported in literatures. Coloboma of the iris has been reported in association with diaphragmatic hernia and in some syndromes with dextrocardia. It can happen in families with genetic presentation looks like autosomal dominant pattern, however other genetic pattern were also reported. The combination of CI, dextrocardia, Criss Cross Heart (CCH) which is a rare condition by itself and the congenital diaphragmatic hernia (CDH) has not been reported before. This report is about an unusual case of a boy presented after birth with left sided CI associated with dextrocardia and CCH, who presented later at the age of 16 months with left sided congenital diaphragmatic hernia that was not been diagnosed early. As far as this search for the English literatures concerned, this is the first report of this exclusive association. It is therefore, highly recommended to investigate cases of CI for an associated CDH especially if it is associated with congenital heart defects such as dextrocardia and CCH.
Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report, American Journal of Pediatrics.
Vol. 4, No. 4,
2018, pp. 100-103.
Copyright © 2018 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/
) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Alsat EA, Reutter H, Bagci S et al; Congenital diaphragmatic hernia in a case of Cat eye syndrome; Clin Case Rep, 2018; 6 (9): 1786–1790.
Højbjerg C G; Mette W; and Ursula F; Mild Noonan phenotype associated with coloboma of the iris and choroid; Clinical Dysmorphology; 11: 75-77; 2002.
Jain A, Kumar P, Jindal A et al; Congenital Diaphragmatic Hernia in a Case of Patau Syndrome: A Rare Association; 2015; J Neonatal Surg: 4 (2): 20.
Mauel D, Ghosh G, Joseph G et al; Criss-cross heart: Tansthoracic echocardiographic features; 2018; Indian Heart J; 70: 71–74.
Kantarci S and Donahoe PK; Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics; 2007: 145C (2): 217-226.
Sperling JD, Sparks TN, Berger VK et al; Perinatal diagnosis of congenital diaphragmatic hernia: Dose laterality predict perinatal outcomes?; 2018; Am J Perinatol; 53 (10): 919–924.
Stoll C, Alembik Y, Dott B et al; Associated malformations in cases with congenital diaphragmatic hernia; 2008; Genet Couns: 19: 331–339.
Verla MA, Style CC, Olutove OO et al; Prenatal intervention for management of congenital diaphragmatic hernia; 2018; 34 (6): 579–587.
Unlot M, DiCairano L, Sclechtweg K et al; 2016; Congenital diaphragmatic hernia in 22q11.2 deletion syndrome; Amer J Med Genetics; 173; 135–142].
Slavotinek AM; The genetics of common disorders–congenital diaphragmatic hernia; 2014; Eur J Med Genet., 57 (8): 418–423.
Aksel KO, Ataman E, Gursoy S, et al; phenotypic spectrum of CHARGE syndrome based on clinical characteristics; 2018; 48 (5): 911–915.
Favier R, Akshoomoff N, Mattson S et al; Jacobsen syndrome: Advances in our knowledge of phenotype and genotype; 2015; 169 (3): 239–250.
Hartill V, Szymanska K, Sharif SM et al; Meckel-Gruber syndrome: An update on diagnosis, clnical management and research advances; 2017; 5: 244.
Brisighelli G, Bischoff A, Levitt M et al: Coloboma and anorectal malformations: a rare association with important clinical implications; 2013; Pediatr Surg Int; 29 (9): 902–912.
Schimmenti L A; Renal coloboma syndrome; 2011; Europ J Human Genetics: 19 (12): 1207–1212.
Fabíola Sawaguchi Faig-LeiteI; Arq. Bras. Cardiol. vol. 91 no. 6 São Paulo Dec. 2008 www.scielo.br/scielo.php?pid=S0066-782X2008001800013&script=sci_arttext&tlng=en.
Bosch-Banyeras J M, Zuasnabar A, Puig A et al; Poland-Möbius syndrome associated with dextrocardia; Journal of Medical Genetics 1984; 21:70-71.
Chadrasekharan P K, Rawat M, Madappa R, et al; Congenital diaphragmatic hermia–a review; 2017; Matern health neonatal Perinatol, 3:6.
Takahashi K, Miyake A, Nakayashiro M, hypoplastic left heart syndrome in pagod syndrome; 2014; 56 (3): 422–444.
Chitayat D, Sroka H, Keating S, etal., The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance; 2007; Am J Med Genet A.; 143A (12):1268-1281.
Ferreira, A. T. S., de Farias Melo, I. C. N., Mariani, R. et al. Donnai Barrow Syn- drome: A Case Study in the School Environment; 2018; Creative Education; 9: 56–66.