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- Joti Devnani, Ujalla Kumari, and Zil-E-Rubab Zil-e-Rubab, MBBS, M-Phil, PhD, Ziauddin Medical College, Ziauddin University, Karachi, Pakistan..
- Joti Devnani, Ziauddin Medical College, Ziauddin University, Karachi, Pakistan.
- Pak J Med Sci. 2019 Sep 1; 35 (5): 1472-1474.
AbstractHarlequin 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.
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