Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses

Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofaci...

Descripción completa

Detalles Bibliográficos
Autores principales: Prajapat, Mahesh, Kothiwala, Sunil K, Sharma, Mohit, Kuldeep, CM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5038102/
https://www.ncbi.nlm.nih.gov/pubmed/27730037
http://dx.doi.org/10.4103/2229-5178.190508
_version_ 1782455861810036736
author Prajapat, Mahesh
Kothiwala, Sunil K
Sharma, Mohit
Kuldeep, CM
author_facet Prajapat, Mahesh
Kothiwala, Sunil K
Sharma, Mohit
Kuldeep, CM
author_sort Prajapat, Mahesh
collection PubMed
description Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect.
format Online
Article
Text
id pubmed-5038102
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-50381022016-10-11 Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses Prajapat, Mahesh Kothiwala, Sunil K Sharma, Mohit Kuldeep, CM Indian Dermatol Online J Case Report Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC5038102/ /pubmed/27730037 http://dx.doi.org/10.4103/2229-5178.190508 Text en Copyright: © Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Prajapat, Mahesh
Kothiwala, Sunil K
Sharma, Mohit
Kuldeep, CM
Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
title Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
title_full Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
title_fullStr Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
title_full_unstemmed Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
title_short Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
title_sort cardiofacio-cutaneous syndrome: classical presentation of a rare genodermatoses
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5038102/
https://www.ncbi.nlm.nih.gov/pubmed/27730037
http://dx.doi.org/10.4103/2229-5178.190508
work_keys_str_mv AT prajapatmahesh cardiofaciocutaneoussyndromeclassicalpresentationofararegenodermatoses
AT kothiwalasunilk cardiofaciocutaneoussyndromeclassicalpresentationofararegenodermatoses
AT sharmamohit cardiofaciocutaneoussyndromeclassicalpresentationofararegenodermatoses
AT kuldeepcm cardiofaciocutaneoussyndromeclassicalpresentationofararegenodermatoses

Ejemplares similares