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Open Access 25-07-2023 | Ichthyosis | Images in Obstetrics and Gynecology
Prenatal diagnosis of a fetal harlequin ichthyosis
Published in: Archives of Gynecology and Obstetrics | Issue 4/2024
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A 24-year-old woman (gravida 2, para 1) was referred at 30 week gestation due to an abnormal fetal profile on prenatal ultrasound and reduced fetal movements. Our ultrasound examination showed the typical dysmorphic facial features of harlequin ichthyosis (HI) including ectropion of the eyelids, outward turning of the lip (eclabium) with an open mouth, and the typical profile. In addition, the joints were immobile and the position of the fingers and toes was abnormal. Interestingly, respiratory movements were still visible. After counseling, the couple decided to terminate the pregnancy Fig. 1.
Fig. 1
3D image of the face with an open mouth (upper left), profile (lower right), and ectropion (denoted by arrows) (lower left). The upper right is a corresponding postnatal image
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