Indexed with PubMed and Science Citation Index (E) 
Users online: 6738 
     Home | Feedback | Login 
About Current Issue Archive Ahead of print Search Instructions Online Submission Subscribe What's New Contact  
    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
    PDF Downloaded101    
    Comments [Add]    

Recommend this journal


Year : 2014  |  Volume : 80  |  Issue : 1  |  Page : 54--57

Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features

Department of Dermatology, Korea University Guro Hospital, Guro dong, Guro-gu, Seoul, Korea

Correspondence Address:
Chil Hwan Oh
Department of Dermatology, Korea University Guro Hospital, Gurodong gil 97, Guro dong, Guro-gu, Seoul, 152 - 703
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0378-6323.125515

Rights and Permissions

Trichorhinophalangeal syndrome type I (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm) visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4), which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling.


Print this article     Email this article

Online since 15th March '04
Published by Wolters Kluwer - Medknow