Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses

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...

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Bibliographic Details
Main Authors: Mahesh Prajapat, Sunil K Kothiwala, Mohit Sharma, C M Kuldeep
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Dermatology Online Journal
Subjects:
Cardiofacio-cutaneous syndrome
genodermatoses
RASopathy
Online Access:http://www.idoj.in/article.asp?issn=2229-5178;year=2016;volume=7;issue=5;spage=396;epage=398;aulast=Prajapat
Description
Summary: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.
ISSN:2229-5178

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