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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2019; 29(04): 448-451
DOI: 10.4103/ijri.IJRI_105_19
Case Report

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI

Kiran A Kale
Departments of Radiology, Indraprasth Apollo Hospital, Sarita Vihar, New Delhi, India
,
Nitin P Ghonge
Departments of Radiology, Indraprasth Apollo Hospital, Sarita Vihar, New Delhi, India
,
Anita Kaul
Departments of Fetal Medicine, Indraprasth Apollo Hospital, Sarita Vihar, New Delhi, India
› Author Affiliations Financial support and sponsorship Nil.
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Abstract

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose these deformities, it has been reported that gene analysis is a more accurate diagnostic method. Harlequin ichthyosis (HI) or Ichthyosis fetalis (IF) is a rare and extremely severe hereditary skin disorder with autosomal recessive inheritance. The ultrasound features have been described well and the diagnosis can be made with a fair degree of confidence. However, the final diagnosis needs to be established by prenatal invasive tests. In the present study, we describe the diagnosis of HI in the third trimester on fetal MRI referred to our department with suspicion of anterior encephalocele which was later confirmed through postnatal genetic evaluation.

Keywords

Adenosine triphosphate binding cassette A12 - fetal - gene - harlequin - magnetic resonance imaging


Publication History

Received: 13 June 2019

Accepted: 23 October 2019

Article published online:
21 July 2021

© 2019. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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