Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review

Prenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography

“…Today, prenatal diagnosis is no longer performed by fetoscopy and skin biopsy 8 9 but by 3D sonography 6 10 11 12 13 14 and DNA analysis after amniocentesis or chorionic villus sampling 2 3 15 16 .…”

“…Prenatal diagnosis using 2D ultrasonography is difficult 17 18 . Abnormalities are usually only detected in the third trimester 14 . Typical sonographic signs include a flat facial profile with a fixed open mouth, growth restriction, limb contractures, and polyhydramnios.…”

“…The detection of debris in amniotic fluid has also been described 19 . A much better representation of the clinical picture, especially of the fetal face, can be achieved with 3D sonography 6 10 11 12 13 14 . In particular, with the surface display in HDlive mode, conspicuous facial details, such as inverted eyelids, a hypoplastic nose, a typical open fish mouth with eclabium and macroglossia, can be displayed in a photograph-like manner ( Fig.…”