Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare ...

Harlequin Ichthyosis is a dermal disorder that always lead to an early death after birth. Although the clinical characteristics of this disorder has been described perfectly but the molecular basis of which isn’t clear well. Harlequin fetus is an Autosomal recessive trait and prenatal diagnosis is possible by embryo skin biopsy after fetoscopy. This case was a male newborn who died 4 days after...

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A female baby who was born by normal vaginal delivery with a birth weight of 2 600 g at the 34th gestational age as the third living baby from the fifth pregnancy of a 32-year old woman was admitted to the neonatal intensive care unit. No consanguineous marriage was reported in the familial history. It was learned that the patient had a healthy brother and a sister, but her two sisters were los...