Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 248
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size
Year : 2021  |  Volume : 64  |  Issue : 4  |  Page : 776-779

Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis

1 Department of Pathology, IPGME&R, Kolkata, West Bengal, India
2 Department of Neonatology, IPGME&R, Kolkata, West Bengal, India
3 Department of Pathology, Coochbehar Government Medical College, Cooch Behar, West Bengal, India

Correspondence Address:
Uttara Chatterjee
Professor, Department of Pathology, Institute of Post Graduate Medical Education and Research, Kolkata - 700 020, West Bengal
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_917_20

Rights and Permissions

Thanatophoric dysplasia type 1 (TD1) is a lethal form of osteochondral dysplasia due to mutation of FGFR3 gene. In addition to severe shortening of the limbs there is temporo-occipital lobe dysplasia along with a range of other CNS anomalies. In this report we describe the radiological and anatomical features at autopsy in neonate with TD1 along with the CNS anomalies. We have also summarized the key distinguishing features of TD1 from other common types of osteochondral dysplasia. An accurate diagnosis is important for genetic counseling and impact on future pregnancies.

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
    PDF Downloaded8    
    Comments [Add]    

Recommend this journal