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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...

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Detalles Bibliográficos
Autores principales: Devnani, Joti, Kumari, Ujalla, Zil-e-Rubab
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2019
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
Descripción
Sumario: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.