Home Print this page Email this page Small font sizeDefault font sizeIncrease font size
Users Online: 865
 
About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Advertise Login 
     
CASE REPORT
Year : 2018  |  Volume : 7  |  Issue : 4  |  Page : 273-278

A case report of Crisponi/cold-induced sweating syndrome 1 in a Saudi family


1 King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences; Department of Pediatrics, King Abdulaziz Medical City-WR, National Guard Health Affairs, Jeddah, Kingdom of Saudi Arabia
2 Section of Molecular Medicine, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City-WR, Jeddah, Kingdom of Saudi Arabia

Correspondence Address:
Dr. Jubara Alallah
Department of Pediatric, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, National Guard Health Affair, P.O. Box: 9515, Jeddah 2123
Kingdom of Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcn.JCN_46_18

Rights and Permissions

Crisponi/cold-induced sweating syndrome 1 (CCIS1) is a rare autosomal recessive condition characterized by intermittent hyperthermia, camptodactyly, dysmorphic features, and paroxysmal muscular contraction in the face with crying or after minimal stimuli. Typical abnormal facial features include broad nose, anteverted nares, and long philtrum. Most of the affected individuals die in the first year of life. Here, we report two affected siblings from a consanguineous Saudi family who presented with phenotypic features of the early-onset CCIS1. The diagnosis was confirmed by identifying a novel homozygous pathogenic variant in the CRLF1 gene.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
  Search Pubmed for
  Search in Google Scholar for
Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed247    
    Printed0    
    Emailed0    
    PDF Downloaded36    
    Comments [Add]    

Recommend this journal