Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review
Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate,...
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Format: | Article |
Language: | English |
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Wiley
2013-01-01
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Series: | Case Reports in Pediatrics |
Online Access: | http://dx.doi.org/10.1155/2013/237935 |
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author | Madan Gopal Choudhary Prashant Babaji Nitin Sharma Dilip Dhamankar Gururaj Naregal Vijay Sunil Reddy |
author_facet | Madan Gopal Choudhary Prashant Babaji Nitin Sharma Dilip Dhamankar Gururaj Naregal Vijay Sunil Reddy |
author_sort | Madan Gopal Choudhary |
collection | DOAJ |
description | Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome. |
format | Article |
id | doaj-art-a488072ed9764446af18a6218a37b66f |
institution | Kabale University |
issn | 2090-6803 2090-6811 |
language | English |
publishDate | 2013-01-01 |
publisher | Wiley |
record_format | Article |
series | Case Reports in Pediatrics |
spelling | doaj-art-a488072ed9764446af18a6218a37b66f2025-02-03T01:23:06ZengWileyCase Reports in Pediatrics2090-68032090-68112013-01-01201310.1155/2013/237935237935Derivative 11;22 (Emanuel) Syndrome: A Case Report and A ReviewMadan Gopal Choudhary0Prashant Babaji1Nitin Sharma2Dilip Dhamankar3Gururaj Naregal4Vijay Sunil Reddy5Department of Pediatrics, SPMC Medical College, Bikaner, Rajasthan 334001, IndiaDepartment of Pedodontics, SPPIDMS, Lucknow 226001, IndiaDepartment of Pedodontics, Vyas Dental College, Jodhpur, Rajasthan 342001, IndiaDepartment of Prasthododntics, NIMS Dental College, Jaipur 302001, IndiaDepartment of Periodontics, SJM Dental College, Chitradurga 577501, IndiaDepartment of Periodontics, College of Dental Science, Bhavnagar 364001, IndiaEmanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.http://dx.doi.org/10.1155/2013/237935 |
spellingShingle | Madan Gopal Choudhary Prashant Babaji Nitin Sharma Dilip Dhamankar Gururaj Naregal Vijay Sunil Reddy Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review Case Reports in Pediatrics |
title | Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review |
title_full | Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review |
title_fullStr | Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review |
title_full_unstemmed | Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review |
title_short | Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review |
title_sort | derivative 11 22 emanuel syndrome a case report and a review |
url | http://dx.doi.org/10.1155/2013/237935 |
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