Harlequin fetus born from Consanguinity: A deleterious case report

Harlequin fetus

  • Joti Devnani
  • Ujalla Kumari
  • Zil-e- Rubab ziauddin University
Keywords: ABCA12 gene, Autosomal recessive, Consanguinity, Harlequin Ichthyosis

Abstract

Harlequin Ichthyosis (HI) is a dreadful skin disorder with steady rise of cases with prolonged survival. Harlequin fetus follows an autosomal recessive pattern with the incidence of 1in 300,000 live births. In the succeeding case report, a male child was born with keratinized and kaleidoscopic diamond pattern of skin suggestive of HI. He was born at 36th week of gestation from consanguineous marriage. The newborn remained under extensive intensive care in a tertiary care unit where he breathed his last on 11th day after birth. Prenatal diagnosis and genetic counseling is of vital importance due to the association of ABCA12 mutation with HI.

doi: https://doi.org/10.12669/pjms.35.5.916

How to cite this:
Devnani J, Kumari U, Zil-e-Rubab. Harlequin fetus born from Consanguinity: A deleterious case report. Pak J Med Sci. 2019;35(5):1472-1474. doi: https://doi.org/10.12669/pjms.35.5.916

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Published
2019-08-22