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American Journal of Medical Case Reports. 2016, 4(1), 35-37
DOI: 10.12691/AJMCR-4-1-10
Case Report

A Rare Case of Thanatophoric Dysplasia

Durga. R1 and T.K Renuka Devi2,

1Department of Obstetrics & Gynaecology, Apollo women’s Hospital, Chennai, India

2Department of Obstetrics & Gynaecology, Madha Medical college and Hospital, Chennai, India

Pub. Date: February 16, 2016
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Cite this paper

Durga. R and T.K Renuka Devi. A Rare Case of Thanatophoric Dysplasia. American Journal of Medical Case Reports. 2016; 4(1):35-37. doi: 10.12691/AJMCR-4-1-10

Abstract

This case is presented for its rarity in the presentation of this dreaded skeletal dysplasia and it is important to differentiate this skeletal dysplasia from others due to overlapping appearance of features with other dysplasia.

Keywords

skeletal dysplasia, thanatophoric dysplasia

Copyright

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]  Tonni Gabriel “Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of denovo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)."congenital anomalies 2014,228-232.
 
[2]  Sangeeta Arya, Kiran Pandey, Disha Gupta, Shefali Pande “Thanatophoric dysplasia: a rare entity” Int j Reprod contracept Obstet Gynecol 2014, 251-253.
 
[3]  Paula j Woodsword,Anne kennedy,Roya sohaey,Janice L.B Byrne, Karen Y Oh, Michael D Puchalski,, Textbook of Diagnostic imaging in Obstetrics,Utah,Amirsys,2005,10-29.
 
[4]  Wilcox, William R. et al. “Molecular, radiologic, and histopathologic correlations in Thanatophoric dysplasia” American journal of Medical genetics, 1998, 274-281.