Prenatal Diagnosis of Congenital Harlequin Ichthyosis with Two- and Three-Dimensional Ultrasound in the Third Trimester

Harlequin ichthyosis (HI) is a rare congenital fetal skin keratinization disorder with an autosomal recessive inheritance. HI has specific sonographic features in the antenatal period. Several reports of prenatal sonographic diagnosis of HI have demonstrated its characteristic facial features that include a persistently open mouth and ectropion, with echogenic amniotic fluid and restriction of limb movements. Here, we report the case of a fetus in the 3rd trimester with these syndromic features identified by two- and three-dimensional sonography. Our ultrasonographic observation of membranes arising from the skin surface is particularly noteworthy. No prior case in which HI has been characterized by three-dimensional ultrasonography has been reported.