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,...

Descripción completa

Detalles Bibliográficos
Autores principales: Choudhary, Madan Gopal, Babaji, Prashant, Sharma, Nitin, Dhamankar, Dilip, Naregal, Gururaj, Reddy, Vijay Sunil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652044/
https://www.ncbi.nlm.nih.gov/pubmed/23691404
http://dx.doi.org/10.1155/2013/237935
_version_ 1782269266509168640
author Choudhary, Madan Gopal
Babaji, Prashant
Sharma, Nitin
Dhamankar, Dilip
Naregal, Gururaj
Reddy, Vijay Sunil
author_facet Choudhary, Madan Gopal
Babaji, Prashant
Sharma, Nitin
Dhamankar, Dilip
Naregal, Gururaj
Reddy, Vijay Sunil
author_sort Choudhary, Madan Gopal
collection PubMed
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 Online
Article
Text
id pubmed-3652044
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-36520442013-05-20 Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review Choudhary, Madan Gopal Babaji, Prashant Sharma, Nitin Dhamankar, Dilip Naregal, Gururaj Reddy, Vijay Sunil Case Rep Pediatr Case Report 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. Hindawi Publishing Corporation 2013 2013-04-18 /pmc/articles/PMC3652044/ /pubmed/23691404 http://dx.doi.org/10.1155/2013/237935 Text en Copyright © 2013 Madan Gopal Choudhary et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Choudhary, Madan Gopal
Babaji, Prashant
Sharma, Nitin
Dhamankar, Dilip
Naregal, Gururaj
Reddy, Vijay Sunil
Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652044/
https://www.ncbi.nlm.nih.gov/pubmed/23691404
http://dx.doi.org/10.1155/2013/237935
work_keys_str_mv AT choudharymadangopal derivative1122emanuelsyndromeacasereportandareview
AT babajiprashant derivative1122emanuelsyndromeacasereportandareview
AT sharmanitin derivative1122emanuelsyndromeacasereportandareview
AT dhamankardilip derivative1122emanuelsyndromeacasereportandareview
AT naregalgururaj derivative1122emanuelsyndromeacasereportandareview
AT reddyvijaysunil derivative1122emanuelsyndromeacasereportandareview

Ejemplares similares