Prenatal Diagnosis of Harlequin Ichthyosis: Report of a Case

Harlequin ichthyosis (HI) - the most severe form of keratinizing disorders, often lethal in the neonatal period - is characterized by a profound thickening of the keratin skin layer, a dense armor-like scale that covers the body, and contraction abnormalities of the eyes, ears, and mouth. Here, we report a recurrent case of fetal HI and its prenatal ultrasonographic diagnosis in a Turkish consanguine couple