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Case Report
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| Mohr syndrome: A rare case of oro-facial-digital syndrome type II with congenital heart disease |
| Prakashgouda HK Goudar1, Ravindra Joshi2, Shivaprakash V Hiremath3, Pramod Bhimrao Gai4 |
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1Junior Research Fellow Research Centre for DNA Diagnostics, Department of Applied Genetics Karnatak University, Dharwad, Karnataka, India.
2Senior Consultant Pediatrician, Chetana Children Clinic Narayanpur Road-Dharwad, Karnataka, India. 3Associate Professor & Head of Department, Department of Biotechnology, K. L. E. Society, P. C. Jabin Science College, Vidyanagar. 4Professor and Co-ordinator, Department of Applied Genetics, Principal Investigator, Research Centre for DNA Diagnostics, Karnatak University, Dharwad, Karnataka, India. |
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doi:10.5348/ijcri-2012-02-94-CR-8
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Address correspondence to: Dr. Pramod Bhimrao Gai Professor and Co-ordinator, Department of Applied Genetics, Principal Investigator Research Centre for DNA Diagnostics, Karnatak University Dharwad - 580003, Karnataka India Phone: 0836- 2446274 Fax: 0836-2215350 Email: pramodbgai@gmail.com |
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| How to cite this article: |
| Goudar PHK, Joshi R, Hiremath SV, Gai PB. Mohr syndrome: A rare case of oro-facial-digital syndrome type II with congenital heart disease. International Journal of Case Reports and Images 2012;3(2):32-35. |
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Abstract
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Introduction:
Oral-Facial-Digital (OFD) syndrome is the collective name of a group of rare inherited syndromes characterised by malformations of the mouth, face, hands and feet. Currently, nine OFD syndromes have been identified and among them OFD I and OFD II are comparatively common. These two can be distinguished from each other with the help of skeletal X-rays and by the observation of various specific symptoms and also have different patterns of inheritance.
Case Report: A case report of a female child with features of OFD II also called as Mohr syndrome is presented in this study. Comparison with all the previously determined features of Mohr syndrome was done with this case and investigations were carried. Conclusion: The report showed the confirmation of Mohr Syndrome in this child along with some uncommon features like congenital heart disease. | |
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Key Words:
OFDS-Type II, Lobulated tongue, Triplication of great toes, Typical facies, Post and preaxial polydactyly
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Author Contributions:
Prakashgouda HK Goudar - Acquisition of data, Analysis and interpretation of data, Drafting the article, Final approval of the version to be published Ravindra Joshi - Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Shivaprakash V Hiremath - Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Pramod Bhimarao Gai - Conception and design, Drafting the article, Critical revision of the article, Final approval of the version to be published |
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Guarantor of submission:
The corresponding author is the guarantor of submission. |
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Source of support:
None |
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Conflict of interest:
Authors declare no conflict of interest. |
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Copyright:
© Prakashgouda HK Goudar et al. 2012; This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see http://www.ijcasereportsandimages.com/copyright-policy.php for more information.) |
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