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Harlequin fetus born from Consanguinity: A deleterious case report
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 diamo...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Professional Medical Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717440/ https://www.ncbi.nlm.nih.gov/pubmed/31489029 http://dx.doi.org/10.12669/pjms.35.5.916 |
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author | Devnani, Joti Kumari, Ujalla Zil-e-Rubab, |
author_facet | Devnani, Joti Kumari, Ujalla Zil-e-Rubab, |
author_sort | Devnani, Joti |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6717440 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Professional Medical Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-67174402019-09-06 Harlequin fetus born from Consanguinity: A deleterious case report Devnani, Joti Kumari, Ujalla Zil-e-Rubab, Pak J Med Sci Case Report 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. Professional Medical Publications 2019 /pmc/articles/PMC6717440/ /pubmed/31489029 http://dx.doi.org/10.12669/pjms.35.5.916 Text en Copyright: © Pakistan Journal of Medical Sciences http://creativecommons.org/licenses/by/3.0 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. |
spellingShingle | Case Report Devnani, Joti Kumari, Ujalla Zil-e-Rubab, Harlequin fetus born from Consanguinity: A deleterious case report |
title | Harlequin fetus born from Consanguinity: A deleterious case report |
title_full | Harlequin fetus born from Consanguinity: A deleterious case report |
title_fullStr | Harlequin fetus born from Consanguinity: A deleterious case report |
title_full_unstemmed | Harlequin fetus born from Consanguinity: A deleterious case report |
title_short | Harlequin fetus born from Consanguinity: A deleterious case report |
title_sort | harlequin fetus born from consanguinity: a deleterious case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717440/ https://www.ncbi.nlm.nih.gov/pubmed/31489029 http://dx.doi.org/10.12669/pjms.35.5.916 |
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