Synonym: Harlequin fetus (OMIM 242500)
Case report: This is a 21-year-old woman, G2P1, referred to our unit for a routine scan at 32 weeks' gestation. The fetal biometry was corresponding to 31-32 weeks. The amniotic fluid was echogenic. The fetus had persistently fixed open mouth with thick lips. There was an evidence of bilateral ectropion (complete eversion of eyelids with edematous and swollen conjunctiva). The fetal movements were restricted and subnormal. The fingers appeared short on 3D surface rendering. Based on the ultrasound findings, the interruption of the pregnancy was performed at 32 weeks.
The newborn showed all classic features of (Harlequin) Congenital Ichthyosis. The hands and feet showed hyperflexion of fingers. The toes were short. The fetal facial features corroborated to the sonographic appearance.
Congenital Ichthyosis is a lethal autosomal recessive disorder. This condition is rare. Congenital Ichthyosis is a rare, lethal disorder resulting from a keratinizing disorder caused by mutations in the ABCA12 gene. The typical ultrasound findings of a harlequin fetus are the open mouth, thick lips and bilateral ectropion. The characteristic feature is a external thickened keratin layer of skin and diffuse plate scaled, giving a thick whitish armor like skin criss crossed by deep red grooves. These resemble a harlequin costume, hence the name "Harlequin Fetusâ€. Facial features include ectropion, eclabium and nasal hypoplasia. The limbs show restricted movements with hypoplastic toes and fingers. In the fetus described here the facial features were depicted in 3D imaging. The head and the feet abnormality were confirmed after birth.
The edematous eyelids