Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report

Sam Hassan; Sameer Sajwani; Pramond Warhekar; Ghassan Nakib; Syed Rizvi

doi:doi:10.11648/j.ajp.20180404.15

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Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report

Sam Hassan, Sameer Sajwani, Pramond Warhekar, Ghassan Nakib, Syed Rizvi

Published in American Journal of Pediatrics (Volume 4, Issue 4)

Received: 24 October 2018 Accepted: 7 November 2018 Published: 3 December 2018

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Abstract

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.

Published in	American Journal of Pediatrics (Volume 4, Issue 4)
DOI	10.11648/j.ajp.20180404.15
Page(s)	100-103
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2018. Published by Science Publishing Group

Keywords

Iris Coloboma, Dextrocardia, Diaphragmatic Hernia, Criss Cross Heart

References

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[2]	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.
[3]	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.
[4]	Mauel D, Ghosh G, Joseph G et al; Criss-cross heart: Tansthoracic echocardiographic features; 2018; Indian Heart J; 70: 71–74.
[5]	Kantarci S and Donahoe PK; Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics; 2007: 145C (2): 217-226.
[6]	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.
[7]	Stoll C, Alembik Y, Dott B et al; Associated malformations in cases with congenital diaphragmatic hernia; 2008; Genet Couns: 19: 331–339.
[8]	Verla MA, Style CC, Olutove OO et al; Prenatal intervention for management of congenital diaphragmatic hernia; 2018; 34 (6): 579–587.
[9]	Unlot M, DiCairano L, Sclechtweg K et al; 2016; Congenital diaphragmatic hernia in 22q11.2 deletion syndrome; Amer J Med Genetics; 173; 135–142].
[10]	Slavotinek AM; The genetics of common disorders–congenital diaphragmatic hernia; 2014; Eur J Med Genet., 57 (8): 418–423.
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[17]	Bosch-Banyeras J M, Zuasnabar A, Puig A et al; Poland-Möbius syndrome associated with dextrocardia; Journal of Medical Genetics 1984; 21:70-71.
[18]	Chadrasekharan P K, Rawat M, Madappa R, et al; Congenital diaphragmatic hermia–a review; 2017; Matern health neonatal Perinatol, 3:6.
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APA Style

Sam Hassan, Sameer Sajwani, Pramond Warhekar, Ghassan Nakib, Syed Rizvi. (2018). 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, 4(4), 100-103. https://doi.org/10.11648/j.ajp.20180404.15

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ACS Style

Sam Hassan; Sameer Sajwani; Pramond Warhekar; Ghassan Nakib; Syed Rizvi. Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report. Am. J. Pediatr. 2018, 4(4), 100-103. doi: 10.11648/j.ajp.20180404.15

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AMA Style

Sam Hassan, Sameer Sajwani, Pramond Warhekar, Ghassan Nakib, Syed Rizvi. Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report. Am J Pediatr. 2018;4(4):100-103. doi: 10.11648/j.ajp.20180404.15

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@article{10.11648/j.ajp.20180404.15,
  author = {Sam Hassan and Sameer Sajwani and Pramond Warhekar and Ghassan Nakib and Syed Rizvi},
  title = {Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report},
  journal = {American Journal of Pediatrics},
  volume = {4},
  number = {4},
  pages = {100-103},
  doi = {10.11648/j.ajp.20180404.15},
  url = {https://doi.org/10.11648/j.ajp.20180404.15},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20180404.15},
  abstract = {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.},
 year = {2018}
}

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TY  - JOUR
T1  - Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report
AU  - Sam Hassan
AU  - Sameer Sajwani
AU  - Pramond Warhekar
AU  - Ghassan Nakib
AU  - Syed Rizvi
Y1  - 2018/12/03
PY  - 2018
N1  - https://doi.org/10.11648/j.ajp.20180404.15
DO  - 10.11648/j.ajp.20180404.15
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 100
EP  - 103
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20180404.15
AB  - 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.
VL  - 4
IS  - 4
ER  -

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Author Information

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?

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APA Style

Sam Hassan, Sameer Sajwani, Pramond Warhekar, Ghassan Nakib, Syed Rizvi. (2018). 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, 4(4), 100-103. https://doi.org/10.11648/j.ajp.20180404.15

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ACS Style

Sam Hassan; Sameer Sajwani; Pramond Warhekar; Ghassan Nakib; Syed Rizvi. Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report. Am. J. Pediatr. 2018, 4(4), 100-103. doi: 10.11648/j.ajp.20180404.15

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AMA Style

Sam Hassan, Sameer Sajwani, Pramond Warhekar, Ghassan Nakib, Syed Rizvi. Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report. Am J Pediatr. 2018;4(4):100-103. doi: 10.11648/j.ajp.20180404.15

Copy | Download

@article{10.11648/j.ajp.20180404.15,
  author = {Sam Hassan and Sameer Sajwani and Pramond Warhekar and Ghassan Nakib and Syed Rizvi},
  title = {Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report},
  journal = {American Journal of Pediatrics},
  volume = {4},
  number = {4},
  pages = {100-103},
  doi = {10.11648/j.ajp.20180404.15},
  url = {https://doi.org/10.11648/j.ajp.20180404.15},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20180404.15},
  abstract = {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.},
 year = {2018}
}

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TY  - JOUR
T1  - Unusual Case of Coloboma of the Iris with Dextrocardia and Criss Cross Heart Presented Later with Left Sided Diaphragmatic Hernia: First Case Report
AU  - Sam Hassan
AU  - Sameer Sajwani
AU  - Pramond Warhekar
AU  - Ghassan Nakib
AU  - Syed Rizvi
Y1  - 2018/12/03
PY  - 2018
N1  - https://doi.org/10.11648/j.ajp.20180404.15
DO  - 10.11648/j.ajp.20180404.15
T2  - American Journal of Pediatrics
JF  - American Journal of Pediatrics
JO  - American Journal of Pediatrics
SP  - 100
EP  - 103
PB  - Science Publishing Group
SN  - 2472-0909
UR  - https://doi.org/10.11648/j.ajp.20180404.15
AB  - 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.
VL  - 4
IS  - 4
ER  -

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